genetic counseling

Summary

Summary: An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.

Top Publications

  1. ncbi To tell or not to tell: barriers and facilitators in family communication about genetic risk
    K Forrest
    Department of Public Health, University of Aberdeen, Medical School, Foresterhill, Aberdeen, UK
    Clin Genet 64:317-26. 2003
  2. ncbi A new era for preventive genetic programs in the Arabian Peninsula
    Ali N Al-Odaib
    Department of Genetics Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia
    Saudi Med J 24:1168-75. 2003
  3. pmc Meta-analysis of BRCA1 and BRCA2 penetrance
    Sining Chen
    Departments of Environmental Health Sciences and Biostatistics, Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA
    J Clin Oncol 25:1329-33. 2007
  4. ncbi Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics
    A C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
    J Med Genet 45:425-31. 2008
  5. ncbi Determination of SMN1 and SMN2 copy number using TaqMan technology
    Dirk Anhuf
    Institute of Human Genetics, RWTH Aachen, Aachen, Germany
    Hum Mutat 22:74-8. 2003
  6. pmc Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling
    B Wirth
    Institute of Human Genetics, Wilhelmstrasse 31, D 53111 Bonn, Germany
    Am J Hum Genet 64:1340-56. 1999
  7. pmc Genetic testing in asymptomatic minors: background considerations towards ESHG Recommendations
    Pascal Borry
    Research Fund Flanders, Centre for Biomedical Ethics and Law, Faculty of Medicine, Katholieke Universiteit Leuven, Leuven, Belgium
    Eur J Hum Genet 17:711-9. 2009
  8. ncbi The general public's understanding and perception of direct-to-consumer genetic test results
    J W Leighton
    Arcadia University Genetic Counseling Program, Glenside, PA, USA
    Public Health Genomics 15:11-21. 2012
  9. ncbi Genetic counseling for the 22q11.2 deletion
    Donna M McDonald-McGinn
    Division of Human Genetics, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Dev Disabil Res Rev 14:69-74. 2008
  10. ncbi Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling
    M Daudin
    CECOS Midi Pyrénées, Toulouse, France
    Fertil Steril 74:1164-74. 2000

Research Grants

  1. Enhanced iron removal with peptide linked chelators targeted to ferritin
    Elizabeth C Theil; Fiscal Year: 2010
  2. BIOCHEMISTRY OF PRE-MRNA SPLICING
    Adrian R Krainer; Fiscal Year: 2010
  3. GENETICS OF DELAYED PUBERTY
    Lawrence C Layman; Fiscal Year: 2013
  4. Investigating the pathogenesis of CoQ10 deficiencies
    Catarina M Quinzii; Fiscal Year: 2013
  5. Identification of Disease-Causing Mutations in SCID Using Exome-Wide Sequencing
    Joseph L Roberts; Fiscal Year: 2010
  6. Novel Immunodeficiency caused by TFRC Mutation
    RAIF SALIM GEHA; Fiscal Year: 2013
  7. Mitochondrial Gene Therapy
    Shoukhrat M Mitalipov; Fiscal Year: 2013
  8. Role of LHX3 Protein Isoforms in Pituitary Development
    SIMON JAMES RHODES; Fiscal Year: 2012
  9. Identification of Novel Genes for Congenital Diaphragmatic Hernia
    Wendy K Chung; Fiscal Year: 2012
  10. Surveillance and Epidemiologic Research of Duchenne and Becker Muscular Dystrophy
    CHARLOTTE MARIE DRUSCHEL; Fiscal Year: 2010

Detail Information

Publications342 found, 100 shown here

  1. ncbi To tell or not to tell: barriers and facilitators in family communication about genetic risk
    K Forrest
    Department of Public Health, University of Aberdeen, Medical School, Foresterhill, Aberdeen, UK
    Clin Genet 64:317-26. 2003
    ..If genetic counsellors understood how these factors operate in individual families they might be able to identify effective strategies to promote considered decisions and prevent unnecessary emotional distress...
  2. ncbi A new era for preventive genetic programs in the Arabian Peninsula
    Ali N Al-Odaib
    Department of Genetics Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia
    Saudi Med J 24:1168-75. 2003
    ..through establishment of databases for common genetic disorders, premarital diagnosis, and pre-implantation genetic diagnosis and by genetic counseling. These preventive measures must take into account the social and cultural aspects.
  3. pmc Meta-analysis of BRCA1 and BRCA2 penetrance
    Sining Chen
    Departments of Environmental Health Sciences and Biostatistics, Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA
    J Clin Oncol 25:1329-33. 2007
    b>Genetic counseling is now routinely offered to individuals at high risk of carrying a BRCA1 or BRCA2 mutation. Risk prediction provided by the counselor requires reliable estimates of the mutation penetrance...
  4. ncbi Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics
    A C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK
    J Med Genet 45:425-31. 2008
    ..Several algorithms that predict the likelihood of carrying a BRCA1 or a BRCA2 mutation are currently used in clinical practice to identify such individuals...
  5. ncbi Determination of SMN1 and SMN2 copy number using TaqMan technology
    Dirk Anhuf
    Institute of Human Genetics, RWTH Aachen, Aachen, Germany
    Hum Mutat 22:74-8. 2003
    ..Identification of carriers for the SMN1 deletion is important for diagnostic purposes and for genetic counseling. The current practical implications of SMN2 copy number determination are limited but may be important, for ..
  6. pmc Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling
    B Wirth
    Institute of Human Genetics, Wilhelmstrasse 31, D 53111 Bonn, Germany
    Am J Hum Genet 64:1340-56. 1999
    Problems with diagnosis and genetic counseling occur for patients with autosomal recessive proximal spinal muscular atrophy (SMA) who do not show the most common mutation: homozygous absence of at least exon 7 of the telomeric survival ..
  7. pmc Genetic testing in asymptomatic minors: background considerations towards ESHG Recommendations
    Pascal Borry
    Research Fund Flanders, Centre for Biomedical Ethics and Law, Faculty of Medicine, Katholieke Universiteit Leuven, Leuven, Belgium
    Eur J Hum Genet 17:711-9. 2009
    ..Second, it discusses, respectively, the presymptomatic and predictive genetic testing for adult-onset disorders, childhood-onset disorders and carrier testing...
  8. ncbi The general public's understanding and perception of direct-to-consumer genetic test results
    J W Leighton
    Arcadia University Genetic Counseling Program, Glenside, PA, USA
    Public Health Genomics 15:11-21. 2012
    ..We conducted a study to investigate consumers' perceptions and understanding of DTC test results...
  9. ncbi Genetic counseling for the 22q11.2 deletion
    Donna M McDonald-McGinn
    Division of Human Genetics, Children s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Dev Disabil Res Rev 14:69-74. 2008
    ..An increase in reproductive fitness will likely follow necessitating enhanced access to genetic counseling for these patients and their families...
  10. ncbi Congenital bilateral absence of the vas deferens: clinical characteristics, biological parameters, cystic fibrosis transmembrane conductance regulator gene mutations, and implications for genetic counseling
    M Daudin
    CECOS Midi Pyrénées, Toulouse, France
    Fertil Steril 74:1164-74. 2000
    ..To evaluate relationships between the phenotypic and genotypic characteristics of patients with congenital bilateral absence of the vas deferens (CBAVD)...
  11. ncbi Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing
    George McGillivray
    Royal Women s Hospital, Melbourne, Victoria, Australia Victorian Clinical Genetics Services, Royal Children s Hospital, Melbourne, Victoria, Australia
    Prenat Diagn 32:389-95. 2012
    ..Non-directive pre-test and post-test genetic counselling is central to the delivery of these ethical objectives...
  12. pmc A whisper-game perspective on the family communication of DNA-test results: a retrospective study on the communication process of BRCA1/2-test results between proband and relatives
    Joël Vos
    Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Fam Cancer 10:87-96. 2011
    ..More attention is required for how probands disseminate information to relatives. Genetic-counsellors may help by supporting the probands in communicating to relatives, e.g. by providing clear summary letters for relatives...
  13. ncbi QUOTE-gene(ca): development of a counselee-centered instrument to measure needs and preferences in genetic counseling for hereditary cancer
    Arwen Pieterse
    NIVEL Netherlands Institute of Health Services Research, PO Box 1568, 3500 BN Utrecht, Netherlands
    Psychooncology 14:361-75. 2005
    Counselees' motives for seeking genetic counseling for hereditary cancer have already been investigated, however not using instruments based on counselees' perspective...
  14. ncbi Increased nuchal translucency in euploid fetuses--what should we be telling the parents?
    C M Bilardo
    Department of Obstetrics and Gynaecology, Fetal Medicine Unit Academic Medical Centre, Amsterdam, The Netherlands
    Prenat Diagn 30:93-102. 2010
    ..Counseling should emphasize this to help parents restore hope in normal pregnancy outcome and infant development...
  15. ncbi Attitudes towards prenatal diagnosis and termination of pregnancy for thalassaemia in pregnant Pakistani women in the North of England
    Shenaz Ahmed
    Academic Unit of Psychiatry and Behavioural Sciences, University of Leeds, Leeds, LS2 9LT, UK
    Prenat Diagn 26:248-57. 2006
    ..This study is aimed at exploring the attitudes of pregnant Pakistani women towards prenatal diagnosis and termination of pregnancy for beta-thalassaemia major in the North of England...
  16. ncbi Premarital screening for beta-thalassaemia in Southern Iran: options for improving the programme
    Mehran Karimi
    Department of Pediatrics, Hematology Research Center, Shiraz University of Medical Science Shiraz, Iran
    J Med Screen 14:62-6. 2007
    ..beta-thalassaemia is a preventable disease. Iran has about 20,000 homozygote beta-thalassaemia patients and 3,750,000 carriers...
  17. pmc Effect of direct-to-consumer genomewide profiling to assess disease risk
    Cinnamon S Bloss
    Scripps Genomic Medicine, Scripps Translational Science Institute, and Scripps Health, La Jolla, CA 92037, USA
    N Engl J Med 364:524-34. 2011
    ..We examined the psychological, behavioral, and clinical effects of risk scanning with the Navigenics Health Compass, a commercially available test of uncertain clinical validity and utility...
  18. ncbi Hereditary breast and ovarian cancer: review and future perspectives
    Michael P Lux
    Department of Obstetrics and Gynecology, University Clinic Erlangen, Universitätsstrasse 21 23, 91054 Erlangen, Germany
    J Mol Med (Berl) 84:16-28. 2006
    ..Without adjuvant hormone therapy or chemotherapy, the overall survival in BRCA mutation carriers is reduced. Chemotherapy regimens involving platinum are particularly beneficial in the treatment of hereditary BC...
  19. ncbi Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling
    M G Ausems
    Department of Medical Genetics, University Medical Center, Utrecht, The Netherlands
    Eur J Hum Genet 7:713-6. 1999
    ..This is about two to four times higher than previously suggested, which is a reason to become more familiar with the presentation of GSD II in its different clinical forms and to adjust the risk assessment for genetic counselling...
  20. ncbi A systematic review of perceived risks, psychological and behavioral impacts of genetic testing
    Jodi T Heshka
    Department of Epidemiology and Community Medicine, University of Ottawa, Ottawa, Ontario, Canada
    Genet Med 10:19-32. 2008
    ..Our data would suggest better knowledge among carriers would not have significant psychological impacts and therefore, it is worth pursuing improved educational strategies...
  21. ncbi The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain
    Roger L Milne
    Unidad de Genotipación CEGEN and Grupo de Genética Humana, Programa de Genética del Cáncer Humano, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain
    Clin Cancer Res 14:2861-9. 2008
    ..estimates of the breast and ovarian cancer penetrances of mutations in BRCA1 and BRCA2 can be used in genetic counseling in countries such as Spain, where the incidence of breast cancer in the general population is considerably ..
  22. ncbi Psychological impact of genetic counseling for familial cancer: a systematic review and meta-analysis
    Dejana Braithwaite
    Department of Public Health and Primary Care, Institute of Public Health, University of Cambridge, Cambridge, UK
    J Natl Cancer Inst 96:122-33. 2004
    Identification of a genetic basis underlying certain types of cancer has led to an increase in demand for genetic counseling about individual risks of the disease...
  23. ncbi Direct to confusion: lessons learned from marketing BRCA testing
    Ellen Matloff
    Yale Cancer Center, 55 Church Street, Suite 402, New Haven, CT 06520, USA
    Am J Bioeth 8:5-8. 2008
    ..The ethics of Myriad's patent, forced monopoly and DTC campaign will be reviewed, as well as the impact of this situation on patient access and care, physician liability, and the future of DTC campaigns for genetic testing...
  24. ncbi Gastric cancer: new genetic developments
    Henry T Lynch
    Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebraska 68178, USA
    J Surg Oncol 90:114-33; discussion 133. 2005
    ..This paper reviews the genetics of both intestinal and diffuse types of gastric carcinoma, their differential diagnosis, molecular genetics, pathology, and, when known, their mode of genetic transmission within families...
  25. ncbi Vascular Ehlers-Danlos syndrome
    Dominique P Germain
    Clinical Genetics Unit, Hopital Europeen Georges Pompidou, 20, rue Leblanc, 75015, Paris, France
    Ann Genet 47:1-9. 2004
    ..radiologists, obstetricians and geneticists since, although there is currently no specific treatment for the condition, knowledge of the diagnosis may help in the management of visceral complications, pregnancy and genetic counseling.
  26. ncbi Increased genetic counseling support improves communication of genetic information in families
    Laura E Forrest
    Murdoch Childrens Research Institute, The Royal Children s Hospital, Melbourne, Australia
    Genet Med 10:167-72. 2008
    To determine whether the provision of additional genetic counseling support could improve the uptake of genetic services by "at-risk" relatives of probands.
  27. ncbi Genetic professionals' reports of nondisclosure of genetic risk information within families
    Angus Clarke
    Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XN, UK
    Eur J Hum Genet 13:556-62. 2005
    ..In most cases, the professionals took further steps to persuade their clients to make a disclosure but in no instance did the professional force a disclosure without the client's consent...
  28. ncbi Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees' perception, the medical impact by the pathogenic or uninformative BRCA1/2-result
    Joël Vos
    Department of Clinical Genetics, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Psychooncology 21:29-42. 2012
    ..In this study, we aimed at quantifying the effect that perception has in genetic counseling for hereditary breast/ovarian cancer.
  29. ncbi Psychosocial issues that face patients with Charcot-Marie-Tooth disease: the role of genetic counseling
    Angela Arnold
    Royal Free Hospital, 8th Floor Oncology Suite, Pond Street, London, NW3 2QG
    J Genet Couns 14:307-18. 2005
    ..symptoms and diagnosis, their life experience with CMT, their limitations due to disability and the role of genetic counseling. This study identifies and explores life issues that individuals with CMT may face, specifically grief over ..
  30. pmc Genetic counselling and testing for inherited gene mutations in newly diagnosed patients with breast cancer: a review of the existing literature and a proposed research agenda
    Bettina Meiser
    Department of Medical Oncology, Prince of Wales Hospital, Randwick, NSW 2031, Australia
    Breast Cancer Res 10:216. 2008
    ....
  31. ncbi A comparison of patient satisfaction with telehealth and on-site consultations: a pilot study for prenatal genetic counseling
    Debra J Abrams
    The Children s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, Pennsylvania 19104, USA
    J Genet Couns 15:199-205. 2006
    ..is a lack of published literature regarding the use of telehealth in clinical genetics and, specifically, in genetic counseling. Those experiences that have been reported mostly centered on cancer genetic counseling, sickle cell anemia ..
  32. ncbi Clinical Review#: State of the art for genetic testing of infertile men
    Robert I McLachlan
    Prince Henry s Institute of Medical Research, P O Box 5152, Clayton 3168, Australia
    J Clin Endocrinol Metab 95:1013-24. 2010
    ..with heterozygosity for cystic fibrosis transmembrane receptor mutations making routine gene screening and genetic counseling of the couple essential...
  33. pmc An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice
    Gemma R Brett
    Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, Victoria, Australia
    Eur J Hum Genet 20:825-30. 2012
    ....
  34. ncbi Whole-genome and whole-exome sequencing in hereditary cancer: impact on genetic testing and counseling
    Julianne M O'Daniel
    Illumina, Inc, San Diego, CA 92122, USA
    Cancer J 18:287-92. 2012
    ..The purpose of this article is to review the technology and outline some of the benefits and challenges of whole-genome and whole-exome sequencing in hereditary cancer practice...
  35. ncbi Genetic testing of sperm donors: survey of current practices
    Charles A Sims
    California Cryobank, Inc, Los Angeles, CA 90025, USA
    Fertil Steril 94:126-9. 2010
    ..To determine which genetic tests are being performed on sperm donor applicants in the United States...
  36. ncbi Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations
    D G Huntsman
    Hereditary Cancer Program, British Columbia Cancer Agency, Vancouver, Canada
    N Engl J Med 344:1904-9. 2001
    ..We describe genetic screening, surgical management, and pathological findings in young persons with truncating mutations in CDH1 from two unrelated families with hereditary diffuse gastric cancer...
  37. ncbi A systematic review of the impact of genetic counseling on risk perception accuracy
    Chris M R Smerecnik
    School for Public Health and Primary Care CAPHRI, Department of Health Education and Health Promotion, Faculty of Health, Medicine and Life Science, Maastricht University, Maastricht, The Netherlands
    J Genet Couns 18:217-28. 2009
    This review presents an overview of the impact of genetic counseling on risk perception accuracy in papers published between January 2000 and February 2007...
  38. ncbi Communicating genetic information in families--a review of guidelines and position papers
    Laura E Forrest
    Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children s Hospital, Flemington Road, Parkville, VIC 3052, Australia
    Eur J Hum Genet 15:612-8. 2007
    ..In conclusion, the guidelines provide an overview of the role that genetic health professionals may undertake; however, there are gaps that need to be addressed...
  39. ncbi Coming full circle: a reciprocal-engagement model of genetic counseling practice
    Patricia McCarthy Veach
    Department of Educational Psychology, 206 Burton Hall, University of Minnesota, 178 Pillsbury Dr, SE, Minneapolis, MN 55455, USA
    J Genet Couns 16:713-28. 2007
    ..genetic in nature to common diseases with both genetic and environmental components, the scope of genetic counseling has grown...
  40. ncbi Prevalence of BRCA mutations among women with triple-negative breast cancer (TNBC) in a genetic counseling cohort
    Rachel Greenup
    Department of Surgery, Duke University, Durham, NC, USA
    Ann Surg Oncol 20:3254-8. 2013
    ..recommend that women ≤60 years with triple-negative breast cancer (TNBC) be referred for consideration of genetic counseling. Small, homogeneous samples have limited evaluation of BRCA mutation prevalence among different ethnicities ..
  41. ncbi Ethical and clinical practice considerations for genetic counselors related to direct-to-consumer marketing of genetic tests
    Christopher H Wade
    Social and Behavioral Research Branch, National Human Genome Research Institute NIH, 2 Center Drive, Bethesda, MD 20892 0249, USA
    Am J Med Genet C Semin Med Genet 142:284-92, discussion 293. 2006
    ..will encounter clients who have been exposed to DTC marketing strategies, these strategies may influence genetic counseling interactions if they produce directed interest in specific tests and unrealistic expectations for the tests' ..
  42. ncbi Survival of trisomy 18 cases in Japan
    G Imataka
    Department of Pediatrics, Dokkyo University School of Medicine, Japan
    Genet Couns 18:303-8. 2007
    ..This evidence is valuable in order to perform genetic counseling concerning the natural history of trisomy 18 not only in Japan but also in other countries.
  43. pmc Effects of genetic counseling for hypertension on changes in lifestyle behaviors among African-American women
    Jacquelyn Y Taylor
    Yale University, Yale School of Nursing, 100 Church Street South, Room 295, New Haven, CT 06536, USA
    J Natl Black Nurses Assoc 20:1-10. 2009
    b>Genetic counseling research has been used for diseases such as breast and other cancers, but genetic counseling for hypertension has been understudied...
  44. ncbi "For all my family's sake, I should go and find out": an Australian report on genetic counseling and testing uptake in individuals at high risk of breast and/or ovarian cancer
    Claire E Wakefield
    School of Women s and Children s Health, University of New South Wales, Sydney, Australia
    Genet Test Mol Biomarkers 15:379-85. 2011
    Despite proven benefits, the uptake of genetic counseling and testing by at-risk family members of BRCA1 and BRCA2 mutation carriers remains low.
  45. ncbi The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy
    Yvonne M Hoedemaekers
    Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
    Circ Cardiovasc Genet 3:232-9. 2010
    ..To contribute to the genetic classification for LVNC, a systematic cardiological family study was performed in a cohort of 58 consecutively diagnosed and molecularly screened patients with isolated LVNC (49 adults and 9 children)...
  46. ncbi Initial cancer genetic counseling consultation: change in counselees' cognitions and anxiety, and association with addressing their needs and preferences
    Arwen H Pieterse
    NIVEL Netherlands Institute of Health Services Research, Utrecht
    Am J Med Genet A 137:27-35. 2005
    The fulfillment of counselees' expectations in cancer genetic counseling and how this affects the outcome of counseling have received little attention so far...
  47. pmc Pompe disease diagnosis and management guideline
    Priya S Kishnani
    Duke University Medical Center, NC, USA
    Genet Med 8:267-88. 2006
  48. pmc Genetic counseling for isolated GnRH deficiency
    Margaret G Au
    Harvard Reproductive Endocrine Sciences Center and Reproductive Endocrine Unit of the Department of Medicine, Massachusetts General Hospital, Boston, MA 02114, USA
    Mol Cell Endocrinol 346:102-9. 2011
    ..b>Genetic counseling aims to accomplish these goals through ascertainment of detailed family histories, targeted comprehensive ..
  49. pmc The BRCAPRO 5.0 model is a useful tool in genetic counseling and clinical management of male breast cancer cases
    Ines Zanna
    Molecular and Nutritional Epidemiology Unit, Cancer Research and Prevention Institute ISPO, Florence, Italy
    Eur J Hum Genet 18:856-8. 2010
    ..5, 0.98, 0.97 and 0.67, respectively, for the combined probability. BRCAPRO version 5.0 can be particularly useful in dealing with non-familial MBC, a circumstance that often represents a challenging situation in genetic counseling.
  50. ncbi BRCA testing of breast cancer patients: medical specialists' referral patterns, knowledge and attitudes to genetic testing
    E Van Riel
    Department of Medical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands
    Eur J Cancer Care (Engl) 19:369-76. 2010
    ..Further studies are needed to gain insight into the actual referral process, while ongoing training of medical specialists about genetic aspects of breast cancer is also necessary...
  51. ncbi Profile of beta-thalassemia in eastern India and its prenatal diagnosis
    Aditi Bandyopadhyay
    Department of Biophysics, Molecular Biology and Genetics, University of Calcutta, 92 A P C Road, Kolkata 700 009, India
    Prenat Diagn 24:992-6. 2004
    ..To control the birth of thalassemic children in India...
  52. pmc Thalassemia in Bombay: the role of medical genetics in developing countries
    B Sangani
    Research Laboratories, B J Wadia Hospital for Children, Parel, Bombay, India
    Bull World Health Organ 68:75-81. 1990
    ..Thus cost-effective management and prevention through screening, genetic counselling, and prenatal diagnosis are at least as important in the developing as in developed countries...
  53. ncbi Genetic uptake in BRCA-mutation families is related to emotional and behavioral communication characteristics of index patients
    Karin Landsbergen
    Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Fam Cancer 4:115-9. 2005
    ..This study is aimed at determining the number of relatives tested for a BRCA mutation, and the exploration of facilitating and debilitating factors in the transmission of genetic information from index patient to relatives...
  54. ncbi Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling
    S Rudnik-Schoneborn
    Institute of Human Genetics, RWTH Aachen University, Aachen, Germany
    Clin Genet 76:168-78. 2009
    ....
  55. pmc Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors
    Jill S Goldman
    Department of Neurology, Columbia University, New York, New York, USA corrected
    Genet Med 13:597-605. 2011
    ..guideline provides clinicians with a framework for assessing their patients' genetic risk for Alzheimer disease, identifying which individuals may benefit from genetic testing, and providing the key elements of genetic counseling for AD.
  56. ncbi Communicating genetic test results to the family: a six-step, skills-building strategy
    M B Daly
    Margaret Dyson Family Risk, Assessment Program, Fox Chase Cancer Center, Philadelphia, PA, USA
    Fam Community Health 24:13-26. 2001
    ..Outcomes will include knowledge, attitudes, and health behavior on the part of both the proband and her first-degree relatives...
  57. ncbi Psychological impact of genetic counselling and testing in women previously diagnosed with breast cancer
    J Randall
    Department of Psychological Medicine, University of Sydney and Royal North Shore Hospital, New South Wales, Australia
    Intern Med J 31:397-405. 2001
    ..The present study assessed the psychological status over time of women affected by breast cancer requesting genetic testing (cases; n = 32) compared with matched controls (n = 28)...
  58. ncbi Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors
    Heather B Radtke
    Children s Hospital of Wisconsin, Genetics Center, MS 716, 9000 W Wisconsin Avenue, Milwaukee, WI 53201, USA
    J Genet Couns 16:387-407. 2007
    The objective of this document is to provide recommendations for the genetic counseling of patients and families undergoing evaluation for neurofibromatosis type 1 (NF1) or who have received a diagnosis of NF1...
  59. ncbi Postmarital follow-up survey on high risk patients subjected to premarital screening program in Saudi Arabia
    Ayman Al Sulaiman
    Department of Genetic, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
    Prenat Diagn 30:478-81. 2010
    ..Ministry of Health in Saudi Arabia had initiated premarital screening program (PMS) in all country regions...
  60. ncbi Does enhanced information at cancer genetic counseling improve counselees' knowledge, risk perception, satisfaction and negotiation of information to at-risk relatives?--a randomized study
    Afsaneh Hayat Roshanai
    Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden
    Acta Oncol 48:999-1009. 2009
    ..The aim of the present randomized intervention study was to investigate the effect of receiving extended cancer genetic information on counselees' knowledge, risk perception, information sharing and satisfaction with the service...
  61. ncbi Effects of coping style and BRCA1 and BRCA2 test results on anxiety among women participating in genetic counseling and testing for breast and ovarian cancer risk
    K P Tercyak
    Lombardi Cancer Center, Georgetown University Medical Center, Washington, DC 20007 4104, USA
    Health Psychol 20:217-22. 2001
    ..Cases selected for analysis were 107 probands and relatives of positive probands participating in genetic counseling and testing for heritable cancer risk...
  62. ncbi Impact of BRCA1/BRCA2 mutation testing on psychologic distress in a clinic-based sample
    Marc D Schwartz
    Department of Oncology, Georgetown University, and Lombardi Cancer Center, Washington, DC 20007, USA
    J Clin Oncol 20:514-20. 2002
    ..The objective of this study was to examine the long-term psychologic impact of receiving BRCA1/2 test results within a clinic-based testing program...
  63. ncbi Attitudes to prenatal testing and termination of pregnancy for fetal abnormality: a comparison of white and Pakistani women in the UK
    Jenny Hewison
    Professor of the Psychology of Healthcare, Institute of Health Sciences and Public Health Research, University of Leeds School of Medicine, 15 Hyde Terrace, Leeds LS2 9LT, UK
    Prenat Diagn 27:419-30. 2007
    ....
  64. ncbi Strategies for the prevention of hereditary diseases in a highly consanguineous population
    B F Meyer
    Aragene Laboratory, Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia
    Ann Hum Biol 32:174-9. 2005
    ..In Saudi society, premarital screening to identify carrier status and the provision of appropriate counselling has tremendous potential to prevent inherited disease...
  65. ncbi Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors
    Janice L Berliner
    Saint Barnabas Medical Center, 94 Old Short Hills Rd, Livingston, NJ 07039, USA
    J Genet Couns 16:241-60. 2007
    These cancer genetic counseling recommendations describe the medical, psychosocial and ethical implications of identifying at-risk individuals for hereditary breast and ovarian cancer (HBOC) through cancer risk assessment, with or without ..
  66. ncbi Effect of genome-wide association studies, direct-to-consumer genetic testing, and high-speed sequencing technologies on predictive genetic counselling for cancer risk
    Michael R Speicher
    Medical University of Graz, Institute of Human Genetics, Graz, Austria
    Lancet Oncol 11:890-8. 2010
    ..Here, we use the example of genetic counselling in colon cancer to describe how these developments will change genetic testing in families at risk of cancer and in the general population...
  67. pmc Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders
    Samuel M Moskowitz
    Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington 98195 7740, USA
    Genet Med 10:851-68. 2008
    ..variability of cystic fibrosis lung disease and the variable expressivity of mild CFTR alleles complicate genetic counseling for this autosomal recessive disorder...
  68. ncbi Genetic testing: psychological aspects and implications
    Caryn Lerman
    Cancer Center, University of Pennsylvania, Philadelphia 19104 4283, USA
    J Consult Clin Psychol 70:784-97. 2002
    ....
  69. ncbi Health-related direct-to-consumer genetic testing: a review of companies' policies with regard to genetic testing in minors
    Pascal Borry
    Centre for Biomedical Ethics and Law, Katholieke Universiteit Leuven, Kapucijnenvoer 35, Box 7001, 3000, Leuven, Belgium
    Fam Cancer 9:51-9. 2010
    ....
  70. ncbi Ethical considerations in the prevention and management of genetic disorders with special emphasis on religious considerations
    Mohammed A Albar
    Saudi Med J 23:627-32. 2002
    ..involved in such management namely premarital medical examination, the question of consanguinity, the genetic counseling, the question of preimplantation diagnosis, the question of abortion and the offering of alternative ways of ..
  71. ncbi Reported referral for genetic counseling or BRCA 1/2 testing among United States physicians: a vignette-based study
    Katrina F Trivers
    Division of Cancer Prevention and Control, National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, Atlanta, Georgia, USA
    Cancer 117:5334-43. 2011
    b>Genetic counseling and testing is recommended for women at high but not average risk of ovarian cancer. National estimates of physician adherence to genetic counseling and testing recommendations are lacking.
  72. pmc Communication and information-giving in high-risk breast cancer consultations: influence on patient outcomes
    E A Lobb
    Medical Psychology Research Unit, Department of Psychological Medicine, The University of Sydney, Sydney NSW 2006, Australia
    Br J Cancer 90:321-7. 2004
    ..Greater use of supportive and counselling communications appeared to increase anxiety about breast cancer. Identifying methods to assist consultants to address emotional issues effectively may be helpful...
  73. ncbi Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH)
    Johan Staaf
    Division of Oncology, Department of Clinical Sciences, Lund University, Lund, Sweden
    Hum Mutat 29:555-64. 2008
    ..g., focusing on breast cancer susceptibility genes, with increased capacity using multiformat design, and represents a valuable new tool and complement for genetic screening in clinical diagnostics...
  74. ncbi Benchmarks for cystic fibrosis carrier screening: a European consensus document
    Carlo Castellani
    Verona Cystic Fibrosis Centre, Italy
    J Cyst Fibros 9:165-78. 2010
    ..The consensus statement also aims to establish the benchmarks for communicating with health care providers, the general public and potential and actual participants before and after the genetic test...
  75. ncbi Men in the women's world of hereditary breast and ovarian cancer--a systematic review
    Nina Strømsvik
    Center of Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway
    Fam Cancer 8:221-9. 2009
    Little is known about men seeking genetic counseling for hereditary breast and ovarian cancer (HBOC). We review the sparse literature on men attending such genetic consultations...
  76. pmc Effect of a computer-based decision aid on knowledge, perceptions, and intentions about genetic testing for breast cancer susceptibility: a randomized controlled trial
    Michael J Green
    Department of Humanities, Penn State College of Medicine, Hershey, PA 17033, USA
    JAMA 292:442-52. 2004
    As the availability of and demand for genetic testing for hereditary cancers increases in primary care and other clinical settings, alternative or adjunct educational methods to traditional genetic counseling will be needed.
  77. pmc Incorporating medical interventions into carrier probability estimation for genetic counseling
    Hormuzd A Katki
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, 6120 Executive Blvd, Room 8044 Rockville, MD 20852, USA
    BMC Med Genet 8:13. 2007
    ..People presenting for genetic counseling are increasingly reporting risk-reducing medical interventions in their family histories because, recently, ..
  78. pmc Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations
    Esme Finlay
    Division of Hematology Oncology, Department of Internal Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104 4283, USA
    Genet Test 12:81-91. 2008
    ..We report disclosure and uptake patterns by BRCA1/2-positive individuals to at-risk relatives, in the setting of no-cost genetic counseling and testing.
  79. ncbi Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: a prospective study
    I van Oostrom
    Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands
    Clin Genet 71:35-42. 2007
    ..Identifying individuals with insufficient sources of support and addressing the family communication concerning hereditary cancer in genetic counseling may help the counselee to adjust better to genetic testing.
  80. ncbi Counseling for male BRCA mutation carriers: a review
    Hussain B Mohamad
    Breast Clinic, Department of Surgery, University of Stellenbosch, Tygerberg, Cape Town, South Africa
    Breast 17:441-50. 2008
    ....
  81. ncbi Women's experience of telehealth cancer genetic counseling
    Elvira M Zilliacus
    Department of Medical Oncology, Prince of Wales Hospital, Randwick, NSW, Australia
    J Genet Couns 19:463-72. 2010
    Telegenetics offers an alternative model of delivering genetic counseling to rural and outreach areas; however there is a dearth of qualitative research into the patient's experience...
  82. pmc Direct-to-consumer genetic testing: an assessment of genetic counselors' knowledge and beliefs
    Kathryn T Hock
    Center for Fetal Diagnosis and Therapy, Wayne State University Physician s Group, Detroit, MI 48201, USA
    Genet Med 13:325-32. 2011
    ..This study assesses genetic counselors' experience, knowledge, and beliefs regarding direct-to-consumer genetic testing for tests that would currently be offered in genetics clinics...
  83. pmc Genetic counseling and testing for common hereditary breast cancer syndromes: a paper from the 2007 William Beaumont hospital symposium on molecular pathology
    Dawn C Allain
    Clinical Cancer Genetics Program, Human Cancer Genetics Program, Department of Internal Medicine, Arthur G James Cancer Hospital and Richard J Solove Research Institute, The Ohio State University, Columbus, OH 43210, USA
    J Mol Diagn 10:383-95. 2008
    ..identification of several genes associated with hereditary breast cancer has fueled the growth of clinical genetic counseling and testing services...
  84. ncbi Carrier screening for beta-thalassemia during pregnancy in India: a 7-year evaluation
    Roshan Colah
    Institute of Immunohaematology, KEM Hospital Campus, Parel, Mumbai, India
    Genet Test 12:181-5. 2008
    ..Premarital screening for beta-thalassemia is not widely acceptable in India; hence, we evaluated the effectiveness of antenatal screening and counseling over 7 years...
  85. ncbi Colon cancer screening practices after genetic counseling and testing for hereditary nonpolyposis colorectal cancer
    Donald W Hadley
    Genetic Counseling Research Unit, Medical Genetics Branch, National Human Genome Research Institute NIH, 10 Center Drive, MSC 1852, Bldg 10 Room 10 C103, Bethesda, MD 20892 1852, USA
    J Clin Oncol 22:39-44. 2004
    ..We assessed the impact of genetic counseling and testing (GCT) on the use of endoscopic screening procedures and adherence to recommended endoscopic ..
  86. ncbi OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling
    N Monnier
    Laboratoire de Biochimie de l ADN, EA 2943 MENRT CEA, CHU Grenoble, Grenoble, France
    Hum Mutat 16:157-65. 2000
    ..Considering the low number of families investigated, it appeared that somatic and germinal mosaicisms are quite common in this disease and must be taken into account for genetic counseling.
  87. ncbi Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives
    Sandra Darilek
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Genet Med 10:13-8. 2008
    ..and particularly one focused on genetic disorders, issues of patient education, result interpretation, and genetic counseling must be anticipated and strategies adopted to allow the implementation of the testing with maximum benefit ..
  88. ncbi Premarital screening of beta-thalassemia trait in the province of Denizli, Turkey
    A Keskin
    Faculty of Medicine, Pamukkale University, Denizli, Turkey
    Acta Haematol 104:31-3. 2000
    ..In 15 of the 9,902 couples, both partners were found to be carriers of the beta-thalassemia trait. After genetic counseling, 2 of the 15 planned carrier marriages were canceled...
  89. ncbi Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India
    Parag M Tamhankar
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India
    Prenat Diagn 29:83-8. 2009
    ..To determine the feasibility and acceptability of premarital screening for beta thalassemia/related hemoglobinopathies followed by prenatal diagnosis in India...
  90. ncbi An assessment of written patient information provided at the genetic clinic and relating to genetic testing in seven European countries
    Celine Lewis
    Genetic Interest Group, London, UK
    Eur J Hum Genet 15:1012-22. 2007
    ..Written information should include risks and limitations of testing as well as discussion of the psychological and social aspects of genetic testing...
  91. ncbi A social network analysis of communication about hereditary nonpolyposis colorectal cancer genetic testing and family functioning
    Laura M Koehly
    Department of Psychology, Texas A and M University, College Station, Texas 77843 4235, USA
    Cancer Epidemiol Biomarkers Prev 12:304-13. 2003
    ..Furthermore, the familial culture can affect an individual's participation in genetic counseling and testing endeavors...
  92. ncbi Genetic counselors' experiences with adolescent patients in prenatal genetic counseling
    Catherine M Griswold
    Maternal Fetal Medicine, Carilion Clinic, 3 Riverside Circle, Roanoke, VA 24016, USA
    J Genet Couns 20:178-91. 2011
    ..In this study, prenatal genetic counselors (N=128) were surveyed regarding their perceptions of genetic counseling sessions for adolescent (ages 13-19) and adult (ages 20-34) patients...
  93. ncbi Genetic counseling and clinical management of newly diagnosed breast cancer patients at genetic risk for BRCA germline mutations: perspective of a surgical oncologist
    Edibaldo Silva
    Center for Breast Care, Creighton University Medical Center, Omaha, NE 68131, USA
    Fam Cancer 7:91-5. 2008
    ..The majority of such individuals make these decisions in haste and without appropriate genetic counseling or testing...
  94. ncbi Clinical geneticists' and genetic counselors' views on the communication of genetic risks: a qualitative study
    Lidewij Henneman
    Department of Public and Occupational Health, EMGO Institute, VU University Medical Center, Amsterdam, The Netherlands
    Patient Educ Couns 73:42-9. 2008
    In genetic counseling, counselees' understanding of risk information is considered crucial for informed decision-making. The counselors' task is to convey risks in a format that is understandable...
  95. ncbi A randomized trial of a breast/ovarian cancer genetic testing decision aid used as a communication aid during genetic counseling
    Claire E Wakefield
    Department of Psychology, Macquarie University, NSW, Australia
    Psychooncology 17:844-54. 2008
    To evaluate the impact of a decision aid for women considering genetic testing for breast/ovarian cancer risk given during genetic counseling.
  96. ncbi Direct-to-Consumer genetic testing: what are we talking about?
    Meredith Weaver
    Department of Pediatrics, University of Maryland School of Medicine, Baltimore, MD, USA
    J Genet Couns 21:361-6. 2012
    ..It is our hope that genetic counselors in practice will continue to critically evaluate claims made about emerging new tests, including those marketed DTC, in order to provide the best possible services to our patients...
  97. ncbi Providing solutions--defining problems: the imperative of disease prevention in genetic counselling
    Lene Koch
    Department of Health Services Research, Institute of Public Health, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark
    Soc Sci Med 60:823-32. 2005
    ..Disease prevention as the solution to increased risks comes to stand out as the right way of relating to oneself, the family, and society...
  98. pmc Tailoring communication in consultations with women from high risk breast cancer families
    E A Lobb
    Medical Psychology Research Unit, Department of Psychological Medicine, University of Sydney, Sydney, New South Wales 2006, Australia
    Br J Cancer 87:502-8. 2002
    ..Methods to facilitate assessment of psychological morbidity are needed to allow more tailored communication...
  99. ncbi Genetic counseling for early-onset familial Alzheimer disease in large Aboriginal kindred from a remote community in British Columbia: unique challenges and possible solutions
    Rachel Butler
    Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    J Genet Couns 20:136-42. 2011
    ..Disseminating genetic information and ensuring that appropriate genetic counseling services are provided to all concerned relatives have posed several unique challenges...
  100. ncbi After the introduction into the national newborn screening program: who is receiving genetic counseling for hemoglobinopathies in the Netherlands?
    J O Kaufmann
    The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Public Health Genomics 17:16-22. 2014
    ..This study was performed to determine how often parents of identified carriers and affected newborns are seen in genetic centers for counseling...
  101. ncbi A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counseling
    Terrell Brotherton
    Department of Neurology, Center for Neurodegenerative Disease, Emory University School of Medicine, Atlanta, Georgia, USA
    Amyotroph Lateral Scler 12:215-9. 2011
    ..This mutation may provide insight into the role of SOD1 structural changes in disease...

Research Grants77

  1. Enhanced iron removal with peptide linked chelators targeted to ferritin
    Elizabeth C Theil; Fiscal Year: 2010
    ..Combined with the small impact, currently, of prevention (genetic counseling) there are a large number of affected births worldwide...
  2. BIOCHEMISTRY OF PRE-MRNA SPLICING
    Adrian R Krainer; Fiscal Year: 2010
    ..Information gained from these basic studies already informs genetic counseling and phenotypic-risk assessment in the clinic, yet there is much room for improvement in predicting genotype-..
  3. GENETICS OF DELAYED PUBERTY
    Lawrence C Layman; Fiscal Year: 2013
    ..Demonstration that NELF and CHD7 mutations cause autosomal dominant disease will directly lead to improved genetic counseling. Characterization of the basic function of NELF and CHD7 will provide novel information related to the ..
  4. Investigating the pathogenesis of CoQ10 deficiencies
    Catarina M Quinzii; Fiscal Year: 2013
    ..Knowing the cause of CoQ10 deficiency will likely enhance our scientific knowledge of CoQ10 biosynthesis, and will provide molecular tests for accurate genetic counseling, prenatal diagnosis, and more rapid initiation of the therapy.
  5. Identification of Disease-Causing Mutations in SCID Using Exome-Wide Sequencing
    Joseph L Roberts; Fiscal Year: 2010
    ..cohort of 29 patients is crucial for: 1) better understanding of immune system development and function;2) genetic counseling and prenatal diagnosis;and 3) possible future application of gene therapy to the treatment of these infants.
  6. Novel Immunodeficiency caused by TFRC Mutation
    RAIF SALIM GEHA; Fiscal Year: 2013
    ..TfR1 surface expression, early intervention with hematopoietic stem cell transplantation (HSCT), and genetic counseling. The proposed studies of the mutation will be applicable to PIDs with a phenotype similar to that of TfR1 ..
  7. Mitochondrial Gene Therapy
    Shoukhrat M Mitalipov; Fiscal Year: 2013
    ..the heteroplasmic state of the mtDNA and associated threshold effects, it is difficult to provide accurate genetic counseling based on preimplantation or prenatal genetic diagnoses...
  8. Role of LHX3 Protein Isoforms in Pituitary Development
    SIMON JAMES RHODES; Fiscal Year: 2012
    ..to the clinic through established collaborations with physicians, permitting new diagnostic tests, allowing genetic counseling of affected families, and facilitating improved treatment of the patients...
  9. Identification of Novel Genes for Congenital Diaphragmatic Hernia
    Wendy K Chung; Fiscal Year: 2012
    ..genetic diagnostic methods and provide more accurate clinical prognostic information that can improve genetic counseling. We will accomplish this through the following specific aims: 1) Obtain diaphragm, skin, blood, and when ..
  10. Surveillance and Epidemiologic Research of Duchenne and Becker Muscular Dystrophy
    CHARLOTTE MARIE DRUSCHEL; Fiscal Year: 2010
    ..time will help us understand (1) the burden of disease on society and (2) if and how various factors such as genetic counseling and changes in management/treatment of DBMD, particularly prednisone therapy, are influencing prevalence and ..
  11. The impact of genetic testing for type 2 diabetes on health behaviors
    William S Yancy; Fiscal Year: 2013
    Results from this study will inform the VA whether genetic counseling can be effective for communicating disease risk, motivating behavior change, and, ultimately, preventing a complex, chronic disease: type 2 diabetes mellitus (T2DM)...
  12. Male Mutation Bias and Paternal Age Effect in Mammals
    Kateryna Makova; Fiscal Year: 2010
    ..Additionally, the conclusions of this project will be important for genetic counseling. Namely, our results will indicate whether the age of a father at the time of conception represents a risk ..
  13. Adult Neurological Phenotypes of Fragile X Gray Zone Expansion
    Deborah A Hall; Fiscal Year: 2013
    ..Results of this study will change the genetic counseling for individuals with FMR1 gray zone expansions...
  14. BIOBEHAVIORAL RESEARCH IN PUBLIC HEALTH GENETICS
    KENNETH TERCYAK; Fiscal Year: 2011
    ..Building off of a successful research career in genetic counseling/testing for hereditary breast/ovarian cancer, he and the Mentors for this project (Debra Roter, Professor of ..
  15. FMR1 CGG Repeats in Primary Ovarian Insufficiency Women vs. 2 Comparison Groups
    Lisa M Pastore; Fiscal Year: 2013
    ..of Obstetricians and Gynecologists and the American College for Medical Genetics (ACMG) have recommended genetic counseling and fragile X premutation (defined as ~55 - 200 CGG repeats in the FMR1 gene) screening for women with POI...
  16. CLONING GENES INVOLVED IN HEARING
    CYNTHIA CASSON MORTON; Fiscal Year: 2012
    ..This knowledge will undoubtedly contribute to better methods for earlier diagnosis, more precise genetic counseling, improved medical treatment, and perhaps, even the prevention of some forms of deafness...
  17. Technologies for mapping interspersed AGG sequences in the FMR1 gene
    LIANGJING CHEN CHEN; Fiscal Year: 2010
    ..The assays will serve as an aid to diagnosis, improve the provision of genetic counseling for FXS and associated disorders, and in the long term, could be used for fetal and newborn screening...
  18. Genetic Basis of Moderate to Severe Hearing Loss in Pakistan
    Sadaf Naz; Fiscal Year: 2011
    ..this study may provide clinical markers to assist in genetic diagnosis of hearing loss and will be useful in genetic counseling of the participants enabling them to make choices since cousin marriages are common in Pakistan...
  19. Mendelian genetic predisposition to herpes simplex encephalitis in childhood
    Jean Laurent Casanova; Fiscal Year: 2013
    ..the pathogenesis of a devastating pediatric illness, making molecular diagnoses available for patients and genetic counseling possible for families...
  20. Molecular Genetics of autosomal dominant non-syndromic hearing loss
    Xue Z Liu; Fiscal Year: 2013
    ..goal is to better understand the genetic and molecular basis of hereditary deafness so that effective genetic counseling and successful treatment strategies can be developed...
  21. Human Epilepsy Genetics - Neuronal Migration Disorders
    Christopher A Walsh; Fiscal Year: 2013
    ..and diagnosis of these conditions that can be quickly translated to clinical practice;improved genetic counseling and testing can be made available to concerned families;and an enhanced understanding of the underlying ..
  22. Clinically Relevant Genome Variation Database
    Sharon E Plon; Fiscal Year: 2013
    ..The consensus of expert review will be disseminated through a user-friendly web Portal (vetted by Genetic Counseling WG), web services for data mining, and consensus clinical guidelines to the appropriate clinical and ..
  23. Genomic Disorders in Neurodevelopmental Disease
    IAN MORGAN CAMPBELL; Fiscal Year: 2013
    ..elements that predispose to such aberrations could improve clinical interpretation of diagnostics as well as genetic counseling of affected patients and families...
  24. Genetic Susceptibility of Neural Tube Defects: Diabetes/Obesity-related Genes
    Huiping Zhu; Fiscal Year: 2010
    ..Clinically, positive findings could lead to improved risk assessment strategies and genetic counseling for families affected by NTDs...
  25. Adherence to Cancer Risk Management Among Unaffected BRCA1/2Mutation Carriers
    Adam H Buchanan; Fiscal Year: 2012
    ..Further, a clear understanding of adherence and factors associated with it could significantly impact genetic counseling practice...
  26. Identification and Characterization of Genes in Congenital Diaphragmatic Hernia
    Margaret J Wat; Fiscal Year: 2013
    ..The knowledge gained will help doctors provide better medical care and genetic counseling to affected families and may lead to new ways to prevent or treat these hernias...
  27. Ethics and Safeguards in Psychiatric Research
    Laura W Roberts; Fiscal Year: 2010
    ..e., consent, confidentiality, &genetic counseling) &investigator- and institutional-oriented safeguards (i.e...
  28. New Gene Discoveries and Biology of Ribosomes in Diamond-Blackfan Anemia
    HANNA TERESA GAZDA; Fiscal Year: 2013
    ..Despite this significant progress in deciphering the genetic causes of DBA, diagnostics and genetic counseling for these patients are still severely hampered by the fact that roughly 50% of cases have mutations in genes ..
  29. Molecular genetics of non-syndromic hearing loss (NSHL)
    Xue Z Liu; Fiscal Year: 2013
    ..goal is to better understand the genetic and molecular basis of hereditary deafness so that effective genetic counseling and successful treatment strategies can be developed...
  30. Statewide Communication to Reach Diverse Low Income Women
    RENA JOY PASICK; Fiscal Year: 2011
    ..trial of telephone counseling for: a) the next breast cancer prevention trial (Study Component 1) and b) genetic counseling for breast or ovarian cancer (Study Component 2);2...
  31. The role of FGF signaling in neuroendocrine control of reproduction
    Nelly Pitteloud; Fiscal Year: 2012
    ..and understanding of the mechanism of pubertal disorders as well as initiating new opportunities for genetic counseling. Further, these genetic studies will provide critical pathophysiologic insights into the role of FGF8 ..
  32. New gene discoveries and biology of ribosomes in Diamond-Blackfan anemia.
    HANNA TERESA GAZDA; Fiscal Year: 2013
    ..Despite this significant progress in deciphering the genetic causes of DBA, diagnostics and genetic counseling for these patients are still severely hampered by the fact that roughly 50% of cases have mutations in genes ..
  33. International Conference for Ectodermal Dysplasias Classification
    Carlos F Salinas; Fiscal Year: 2012
    ..a better understanding of ectodermal dysplasias and result in a better diagnosis, treatment approach and genetic counseling. Secondly, the conference will foster further interest in not only this area of research but potentially ..
  34. Membrane Proteins of Normal and Abnormal Red Cells
    David W Speicher; Fiscal Year: 2013
    ..It is anticipated these studies will provide a solid foundation for genetic counseling as well as potential future development of novel therapeutic treatments for specific HE and HPP mutations...
  35. Prevention of Complications of Thalassemia
    Patricia J Giardina; Fiscal Year: 2011
    ..Culturally competent screening, genetic counseling and prenatal diagnosis are also provided on-site and in outreach programs to identify those who can benefit ..
  36. Extending the Phenotype of Nonsyndromic Orofacial Clefts
    Mary L Marazita; Fiscal Year: 2012
    ..This knowledge will lead to improved genetic counseling in families with cleft lip and palate, and also will eventually lead to improved therapies for these very ..
  37. De novo copy number variation and gene discovery in human brain malformations
    William B Dobyns; Fiscal Year: 2012
    ..diagnosis and outcome counseling, which will include specific diagnostic testing, as well as improved genetic counseling. RELEVANCE The work proposed in this grant will lead to lead to the discovery of many of the genes that ..
  38. Genome-wide dissection of Mendelian susceptibility to mycobacterial disease
    Jean Laurent Casanova; Fiscal Year: 2013
    ..pathogenesis of mycobacterial disease, making it possible to provide molecular diagnoses for patients and genetic counseling for families...
  39. Exome sequencing and functional studies in familial CHD
    Peter White; Fiscal Year: 2013
    ..In the current era of fetal diagnosis and intervention, this knowledge will be used to improve prevention measures, in utero diagnosis, genetic counseling and therapy.
  40. The Otopathology of Hearing Loss: Genotype-Phenotype Correlation in Human TB
    Fred H Linthicum; Fiscal Year: 2013
    ..sequelae, as well as the identification of targets for future treatment and, importantly, improved genetic counseling. Because of an almost complete lack of human biopsy material associated with inner ear disease, such ..
  41. Understanding the Role of C2orf43 in Hearing Loss
    Benjamin B Currall; Fiscal Year: 2013
    ..Identifying genes involved in hearing loss is essential for precise diagnosis, genetic counseling and future treatment of this common abnormality...
  42. LYSOSOMAL ENZYMES AND ASSOCIATED HUMAN GENETIC DISEASES
    Peter Lobel; Fiscal Year: 2012
    ..The gene defects in over 40 different LSDs have been identified, which, through genetic counseling, has greatly decreased the prevalence of some of these disorders...
  43. Mapping nonsyndromic cleft lip and palate genetic loci
    Jacqueline T Hecht; Fiscal Year: 2013
    ..This approach is a significant step forward;the results will add important new information to the developing knowledge base of genetic variation responsible for NSCLP, which will translate into genetic counseling for at-risk families.
  44. Gene/environment interactions underlying Fetal Alcohol Spectrum Disorder.
    Neil McCarthy; Fiscal Year: 2012
    ..This will further promote advancements in genetic counseling, diagnosis and treatment of FASD.
  45. Center for ELSI Research on Psychiatric Neurologic and Behavioral Genetics
    PAUL STUART APPELBAUM; Fiscal Year: 2012
    ..To accomplish this, we will knit together faculty with backgrounds in medicine, public health, genetic counseling, psychology, sociology, law, social work, and other areas of study...
  46. Center for Transdisciplinary ELSI Research in Translational Genomics
    Carol P Somkin; Fiscal Year: 2013
    ..To enhance transdisciplinary collaboration, we will develop a one year ELSl fellowship for clinicians from multiple fields, including nursing, pharmacy, genetic counseling, and clinical medicine.
  47. 12th International Congress of Human Genetics
    Joann A Boughman; Fiscal Year: 2011
    ..ethical, legal and social issues, evolutionary and population genetics, gene structure and gene function, genetic counseling and clinical testing, genetics education, genomics, health services research, metabolic disorders, molecular ..
  48. Presenting Diagnostic Results from Large-Scale Clinical Mutation Testing
    Richard R Sharp; Fiscal Year: 2010
    ....
  49. Impact of Direct to Consumer Genetic Testing
    Scott Roberts; Fiscal Year: 2012
    ..team of experts with backgrounds in medicine, genetic testing policy and practice, health communication, genetic counseling, health psychology, health law, bioethics and web survey design...
  50. A genetic dissection of Mendelian susceptibility to mycobacterial diseases (MSMD)
    Jean Laurent Casanova; Fiscal Year: 2013
    ..pathogenesis of mycobacterial disease, making it possible to provide molecular diagnoses for patients and genetic counseling for families...
  51. Health IT Enhanced Family Health History Documentation &Management in Primary Ca
    Jennifer S Haas; Fiscal Year: 2013
    ..g., intensive screening, lifestyle modification, preventative therapies, and genetic counseling)...
  52. Development of HTS assays for mitochondrial function
    Michael King; Fiscal Year: 2009
    ..While the identification of pathogenic mutations in nuclear and mitochondrial DNA has aided the genetic counseling of patients, the prognosis of patients is not good...
  53. Social influence of family networks on T2D risk perceptions and health behavior
    Melanie F Myers; Fiscal Year: 2011
    ..The scientific disciplines represented by the candidate include genetic counseling, public health genomics (with an emphasis on social and behavioral science), and applied epidemiology...
  54. Genetic Risk Prediction in Primary Care
    Swati Biswas; Fiscal Year: 2013
    ..Although BRCAPRO is widely used in genetic counseling, an impediment to its use in primary care is the fact that it requires potentially extensive information on ..
  55. Characterization of KISS1R, a G protein coupled receptor, in reproduction
    Le Min; Fiscal Year: 2013
    ..the associated phenotypes, laying the groundwork for the development of new diagnostic tools as well as for genetic counseling of patients and their family members, and identifying novel therapeutic targets...
  56. Personalized Medicine: Understanding and Utilization by Health Care Providers
    MARY BERYL DALY; Fiscal Year: 2010
    ..To create a Steering Committee composed of investigators at each site with expertise in genetics, genetic counseling, professional education, information technology, ethical issues related to genomics technologies and ..
  57. Functional Analysis of RPL35A Alterations in Diamond Blackfan Anemia
    JASON ELI FARRAR; Fiscal Year: 2013
    ..new genetic cause of Diamond Blackfan anemia, these studies will improve the ability to diagnose and provide genetic counseling to at-risk families and may identify new targets for more effective treatments...
  58. Molecular approaches to gene identification in congenital heart disease
    Dorothy P Warburton; Fiscal Year: 2013
    ..We believe this information will provide more accurate clinical prognostic information that can improve genetic counseling and assist families in accurately determining risk of recurrence and prognosis associated with CHD RELEVANCE ..
  59. The Self Regulation Model in BRCA 1/2 Genetic Counseling
    KIMBERLY MICHELLE KELLY; Fiscal Year: 2009
    DESCRIPTION (provided by applicant): Genetic counseling, a specialized form of cancer risk communication, has been considered a "Black Box" as few studies have investigated the content of genetic counseling...
  60. Assessing the utility of genomic counseling for common complex diseases
    Kevin M Sweet; Fiscal Year: 2013
    ..Working within the structure of the two existing Parent studies, we will gather feedback on current genetic counseling approaches (phone and in-person) on 60 study participants...
  61. Dominantly Inherited Alzheimer Network
    John Morris; Fiscal Year: 2010
    ..5. Provide genetic counseling to all DIAN participants and, for those who after counseling wish to learn their mutation carrier status, ..
  62. 2/4-The Autism Sequencing Consortium: Autism gene discovery in >20,000 exomes
    Mark J Daly; Fiscal Year: 2013
    ..to maximize the identification of valid ASD loci, because validated risk variants present opportunities for genetic counseling, understanding pathogenesis, and drug development...
  63. A Bridge Between the Academic and Clinical Setting: Evi*
    Rebecca Craik; Fiscal Year: 2003
    ..doctorate of physical therapy, master of science in physician assistant studies, master of science in genetic counseling, the master of science in public health, master of science in health education, and master of arts in ..
  64. Attitudes Regarding Prenatal and Preimplantation Genetic Diagnosis For Inherited
    Lisa Rubin; Fiscal Year: 2009
    ..to screen for BRCA1/2 mutations, and (3) to elicit patient opinions about the presentation of ART in genetic counseling. Approximately 30 BRCA mutation carriers of reproductive age will be presented a brief, standardized ..
  65. COMPARISON OF CHORION VILLUS SAMPLING AND AMNIOCENTESIS
    ROBERT DESNICK; Fiscal Year: 1990
    ..Non-directive genetic counseling will be provided, and informed consent will be obtained...
  66. HUMAN GENOME EDUCATION MODEL (HUGEM) PROJECT II
    E Lapham; Fiscal Year: 2001
    ..clients about participating in genetic testing or research; 6) provide referrals to other resources such as genetic counseling and genetic support groups; 7) provide counseling related to coping with and adjusting to a genetic ..
  67. PROGRAM PROJECT GRANT
    Jouni Uitto; Fiscal Year: 2006
    ..correlations; (b) identification of novel and de novo COL7A1 mutations in dominant DEB, with an impact on genetic counseling of the families at risk of recurrence; (c) identification of a large number of novel and recurrent mutations ..
  68. Implementing Newborn Screening for Duchenne Muscular Dystrophy in the Community
    Jerry Mendell; Fiscal Year: 2009
    ..this proposal);3) excessive expense and anxiety of the later diagnostic challenge faced by many families;4) genetic counseling to families at risk for having more sons with DMD (multiple boys with DMD leads to overwhelming financial ..
  69. GENETIC LINKAGE BETWEEN UC AND THE HLA CLASS II LOCI
    Richard Duerr; Fiscal Year: 1999
    ..Identification of UC susceptibility genes or linked genetic markers will also permit more accurate genetic counseling for affected individuals and their families...
  70. Prevention of Ovarian Cancer in Women Participating in Mammography
    Nicole Urban; Fiscal Year: 2009
    ..history (FH) data in mammography systems in order to systematically identify HR women for referral to risk/genetic counseling (R/GC). In addition we will explore the use of serum markers as risk prediction tools to complement FH...
  71. AN EVALUATION OF TESTING AND COUNSELING FOR CF CARRIERS
    James Sorenson; Fiscal Year: 1993
    ..To accomplish the second study, all CF carrier genetic counseling clients will be randomly assigned to either (1) view a precounseling video preparing them for the counseling ..
  72. Genetics, Genomic Research, and Consent: Attitudes of Pediatric Cancer Survivors
    ANDREA PATENAUDE; Fiscal Year: 2007
    ..describe, and compare: [unreadable] * their level of knowledge about hereditary cancer, * their interest in genetic counseling and testing, * factors related to their willingness to donate genetic material for genomic research, and * ..
  73. BRCA1/2 Education for Mothers and Their Teen Daughters
    BETH PESHKIN; Fiscal Year: 2006
    ..Though genetic counseling protocols recognize the importance of this behavior to help control the spread of hereditary cancer within ..
  74. Planning International Orofacial Cleft Genetic Studies
    Mary Marazita; Fiscal Year: 2007
    ..Upon meeting this goal, recurrence risk calculation and genetic counseling for this common birth defect will be vastly improved...
  75. RECEPTIVITY TO SICKLE/THAL SCREENING DURING PREGNANCY
    Peter Rowley; Fiscal Year: 1990
    ..to train the primary providers of obstetrical care to provide their own carrier patients with appropriate genetic counseling, (2) to compare counseling by the primary providers with counseling by the present tertiary providers (the ..
  76. STATISTICAL MODELS OF GENETIC ANTICIPATION IN PSYCHIATRY
    Jian Huang; Fiscal Year: 2002
    ..mechanism can have profound implications for gene mapping protocols, as well as for clinical treatment and genetic counseling. However, proper statistical methods for the detection of age-of-onset anticipation remain to be developed ..
  77. Function & Purification of the Fanconi Anemia Protein C*
    Gary Kupfer; Fiscal Year: 2006
    ..Fourth, basic work on FA has already led to clinical use of reagents for diagnosis and genetic counseling, and gene therapy trials are currently underwav for treatment of FA...