genetic testing


Summary: Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.

Top Publications

  1. Kluska A, Balabas A, Piatkowska M, Czarny K, Paczkowska K, Nowakowska D, et al. PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland. BMC Med Genomics. 2017;10:14 pubmed publisher
    ..Germline mutations in the PALB2 gene were observed at a frequency of approximately 1.5% in Polish breast and/or ovarian cancer patients. Our study confirms two recurrent PALB2 mutations; c.172_175delGA and c.509_510delGA. ..
  2. Bradbury A, Patrick Miller L, Domchek S. Multiplex genetic testing: reconsidering utility and informed consent in the era of next-generation sequencing. Genet Med. 2015;17:97-8 pubmed publisher
  3. . Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy?. Genet Med. 2013;15:517-27 pubmed publisher
    ..Adverse events related to cancer chemotherapy can be common and severe. Therefore, successfully optimizing treatment to maximize efficacy and minimize side effects is important for reducing mCRC-related morbidity and mortality. ..
  4. Gat I, Tang K, Quach K, Kuznyetsov V, Antes R, Filice M, et al. Sperm DNA fragmentation index does not correlate with blastocyst aneuploidy or morphological grading. PLoS ONE. 2017;12:e0179002 pubmed publisher
    ..4%, with a similar morphological classification. No significant differences were found regarding pregnancy rates or pregnancy loss. It seems that DFI doesn't correlate with blastocyst aneuploidy or morphological grading. ..
  5. Houlleberghs H, Goverde A, Lusseveld J, Dekker M, Bruno M, Menko F, et al. Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity. PLoS Genet. 2017;13:e1006765 pubmed publisher
    ..We demonstrate the efficacy of the genetic screen, investigate the phenotype of 26 MSH6 VUS and compare our screening results to clinical data from suspected-LS patients carrying these variant alleles. ..
  6. Zhao X, Wang X, Fang L, Lan C, Zheng X, Wang Y, et al. A combinatorial strategy using YAP and pan-RAF inhibitors for treating KRAS-mutant pancreatic cancer. Cancer Lett. 2017;402:61-70 pubmed publisher
  7. Bacon B, Adams P, Kowdley K, Powell L, Tavill A. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology. 2011;54:328-43 pubmed publisher
  8. Botstein D, White R, Skolnick M, Davis R. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet. 1980;32:314-31 pubmed
    ..For inherited diseases mapped in this way, linked DNA marker loci can be used predictively for genetic counseling. ..
  9. Brownstein C, Beggs A, Homer N, Merriman B, Yu T, Flannery K, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014;15:R53 pubmed publisher
    ..There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups. ..

More Information


  1. McGowan M, Cho D, Sharp R. The changing landscape of carrier screening: expanding technology and options?. Health Matrix Clevel. 2013;23:15-33 pubmed
  2. . Committee Opinion Summary No. 640: Cell-Free DNA Screening For Fetal Aneuploidy. Obstet Gynecol. 2015;126:691-2 pubmed publisher
  3. Amstutz U, Carleton B. Pharmacogenetic testing: time for clinical practice guidelines. Clin Pharmacol Ther. 2011;89:924-7 pubmed publisher
  4. Sabath D. Molecular Diagnosis of Thalassemias and Hemoglobinopathies: An ACLPS Critical Review. Am J Clin Pathol. 2017;148:6-15 pubmed publisher
    ..Globin disorders, techniques for their diagnosis, and the role of molecular genetic testing in managing patients with these disorders are described in detail...
  5. Budin Ljøsne I, Bentzen H, Solbakk J, Myklebost O. Genome sequencing in research requires a new approach to consent. Tidsskr Nor Laegeforen. 2015;135:2031-2 pubmed publisher
  6. Manolio T. Genomewide association studies and assessment of the risk of disease. N Engl J Med. 2010;363:166-76 pubmed publisher
  7. Feero W, Green E. Genomics education for health care professionals in the 21st century. JAMA. 2011;306:989-90 pubmed publisher
  8. Ross O, Vilariño Güell C, Wszolek Z, Farrer M, Dickson D. Reply to: SNCA variants are associated with increased risk of multiple system atrophy. Ann Neurol. 2010;67:414-5 pubmed publisher
  9. Gross S, Ryan A, Benn P. Noninvasive prenatal testing for 22q11.2 deletion syndrome: deeper sequencing increases the positive predictive value. Am J Obstet Gynecol. 2015;213:254-5 pubmed publisher
  10. Sestak I, Cuzick J. Markers for the identification of late breast cancer recurrence. Breast Cancer Res. 2015;17:10 pubmed publisher
    ..However, further research is needed to select individual biomarkers or multi-gene signatures that offer identification of late recurrence specifically and thus justify routine use of these tests in the clinical setting. ..
  11. Perugini M, Iarossi D, Kok C, Cummings N, Diakiw S, Brown A, et al. GADD45A methylation predicts poor overall survival in acute myeloid leukemia and is associated with IDH1/2 and DNMT3A mutations. Leukemia. 2013;27:1588-92 pubmed publisher
  12. Cogulu O, Schoumans J, Toruner G, Demkow U, Karaca E, Durmaz A. Laboratory Genetic Testing in Clinical Practice 2016. Biomed Res Int. 2017;2017:5798714 pubmed publisher
  13. Hüls A, Ickstadt K, Schikowski T, Kramer U. Detection of gene-environment interactions in the presence of linkage disequilibrium and noise by using genetic risk scores with internal weights from elastic net regression. BMC Genet. 2017;18:55 pubmed publisher
  14. Kocarnik J, Fullerton S. Returning pleiotropic results from genetic testing to patients and research participants. JAMA. 2014;311:795-6 pubmed publisher
  15. Takahashi K, Nakajima K, Shino M, Toyoda M, Takayasu Y, Chikamatsu K. [Prediction of Post-operative Lymph Node Metastasis with a Molecular Biological Test in Head and Neck Cancer]. Nihon Jibiinkoka Gakkai Kaiho. 2015;118:135-9 pubmed
    ..We concluded that the pathological test underestimated metastasis, and OSNA with MMP-7 was useful for the prediction of post-operative lymph node metastasis. ..
  16. Szopa M, Ludwig Gałęzowska A, Radkowski P, Skupien J, Zapała B, Płatek T, et al. Genetic testing for monogenic diabetes using targeted next-generation sequencing in patients with maturity-onset diabetes of the young. Pol Arch Med Wewn. 2015;125:845-51 pubmed
    ..The screening with NGS should also include diabetic patients for whom Sanger-based screening for particular subtypes of MODY provided negative results. ..
  17. Farrell P, White T, Howenstine M, Munck A, Parad R, Rosenfeld M, et al. Diagnosis of Cystic Fibrosis in Screened Populations. J Pediatr. 2017;181S:S33-S44.e2 pubmed publisher] should be used to aid with CF diagnosis. Finally, to avoid delays in treatment, we provide guidelines for presumptive diagnoses and recommend how to determine the age of diagnosis. ..
  18. Prasad V. Perspective: The precision-oncology illusion. Nature. 2016;537:S63 pubmed publisher
  19. Hampel H, de la Chapelle A. How do we approach the goal of identifying everybody with Lynch syndrome?. Fam Cancer. 2013;12:313-7 pubmed publisher
  20. Driscoll D, Salvin J, Sellinger B, Budarf M, McDonald McGinn D, Zackai E, et al. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. J Med Genet. 1993;30:813-7 pubmed
    ..We conclude that FISH is an efficient and direct method for the detection of 22q11 deletions in subjects with features of DGS and VCFS as well as in pregnancies at high risk for a deletion. ..
  21. Goldenberg A, Sharp R. The ethical hazards and programmatic challenges of genomic newborn screening. JAMA. 2012;307:461-2 pubmed publisher
  22. Mayer A, Dimmock D, Arca M, Bick D, Verbsky J, Worthey E, et al. A timely arrival for genomic medicine. Genet Med. 2011;13:195-6 pubmed publisher
  23. Hutson S. Data handling errors spur debate over clinical trial. Nat Med. 2010;16:618 pubmed publisher
  24. Yla Herttuala S, Bentzon J, Daemen M, Falk E, Garcia Garcia H, Herrmann J, et al. Stabilization of atherosclerotic plaques: an update. Eur Heart J. 2013;34:3251-8 pubmed publisher
  25. Bianchi D, RAVA R, Sehnert A. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;371:578 pubmed publisher
  26. Teufel A, Dufour J. Two-Step Forward Genetic Screen in Mice Identifies the Ral Pathway as a Central Drug Target in Hepatocellular Carcinoma. Gastroenterology. 2016;151:231-3 pubmed publisher
  27. Krishna V, Diamond G, Kaul S. Do platelet function testing and genotyping improve outcome in patients treated with antithrombotic agents?: the role of platelet reactivity and genotype testing in the prevention of atherothrombotic cardiovascular events remains unproven. Circulation. 2012;125:1288-303; discussion 1303 pubmed publisher
  28. Palecek T, Ganame J, Di Salvo G. Myocardial Diseases: Current Views on Etiopathogenesis, Diagnostic Modalities, and Therapeutic Options. Biomed Res Int. 2016;2016:1720405 pubmed publisher
  29. Nelson H, Pappas M, Zakher B, Mitchell J, Okinaka Hu L, Fu R. Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation. Ann Intern Med. 2014;160:255-66 pubmed
    ..To review new evidence on the benefits and harms of risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women...
  30. Blazer K, Slavin T, Weitzel J. Increased Reach of Genetic Cancer Risk Assessment as a Tool for Precision Management of Hereditary Breast Cancer. JAMA Oncol. 2016;2:723-4 pubmed publisher
  31. Raspa M, Wheeler A, Riley C. Public Health Literature Review of Fragile X Syndrome. Pediatrics. 2017;139:S153-S171 pubmed publisher
    ..Despite a wealth of information about the condition, much work remains to fully support affected individuals and their families. ..
  32. Çolak R, Alkan Özdemir S, Yangın Ergon E, KaÄŸnıcı M, Çalkavur Å. A Different SLC2A1 Gene Mutation in Glut 1 Deficiency Syndrome: c.734A>C. Balkan Med J. 2017;34:580-583 pubmed publisher
    ..This new pathogenic variant can be seen in glucose transporter type 1 deficiency syndrome. ..
  33. Ku C, Roukos D. From next-generation sequencing to nanopore sequencing technology: paving the way to personalized genomic medicine. Expert Rev Med Devices. 2013;10:1-6 pubmed publisher
  34. Evans J. When is a medical finding "incidental"?. Genet Med. 2013;15:515-6 pubmed publisher
  35. James P, Mitchell G, Bogwitz M, Lindeman G. The Angelina Jolie effect. Med J Aust. 2013;199:646 pubmed
  36. Hulur I, Skol A, Gamazon E, Cox N, Onel K. Integrative genetic analysis suggests that skin color modifies the genetic architecture of melanoma. PLoS ONE. 2017;12:e0185730 pubmed publisher
    ..We speculate that incorporating skin color and other non-genetic factors into genetic studies may allow for an improved understanding of melanoma susceptibility and guide future investigations to identify melanoma risk genes...
  37. Evans J, Rothschild B. Return of results: not that complicated?. Genet Med. 2012;14:358-60 pubmed publisher
  38. Agerholm J, Basse A, Christensen K. Investigations on the occurrence of hereditary diseases in the Danish cattle population 1989-1991. Acta Vet Scand. 1993;34:245-53 pubmed
    ..The aberration occurred frequently in BAQ. Furthermore, a complex chromosome translocation t(1;8;9)(q45;q13;q26) was detected in the Red Danish Dairy breed. ..
  39. Rubio C. Update on preimplantation genetic diagnosis for chromosomal abnormalities. Expert Rev Mol Diagn. 2010;10:973-6 pubmed publisher
  40. Bellcross C. Further development and evaluation of a breast/ovarian cancer genetics referral screening tool. Genet Med. 2010;12:240 pubmed publisher
  41. van der Wouden C, Carere D, Maitland van der Zee A, Ruffin M, Roberts J, Green R. Consumer Perceptions of Interactions With Primary Care Providers After Direct-to-Consumer Personal Genomic Testing. Ann Intern Med. 2016;164:513-22 pubmed publisher
    ..National Institutes of Health. ..
  42. Kolor K, Chen Z, Grosse S, Rodriguez J, Green R, Dotson W, et al. BRCA Genetic Testing and Receipt of Preventive Interventions Among Women Aged 18-64 Years with Employer-Sponsored Health Insurance in Nonmetropolitan and Metropolitan Areas - United States, 2009-2014. MMWR Surveill Summ. 2017;66:1-11 pubmed publisher
    b>Genetic testing for breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) gene mutations can identify women at increased risk for breast and ovarian cancer...
  43. Harton G, Cinnioglu C, Fiorentino F. Current experience concerning mosaic embryos diagnosed during preimplantation genetic screening. Fertil Steril. 2017;107:1113-1119 pubmed publisher
    ..Finally, an attempt is made to look to other fields of genetics to understand how this important issue can be dealt with as a group much better than any one individual group may be able to. ..
  44. Berg A, Coryell J, Saneto R, Grinspan Z, Alexander J, Kekis M, et al. Early-Life Epilepsies and the Emerging Role of Genetic Testing. JAMA Pediatr. 2017;171:863-871 pubmed publisher
    Early-life epilepsies are often a consequence of numerous neurodevelopmental disorders, most of which are proving to have genetic origins. The role of genetic testing in the initial evaluation of these epilepsies is not established.
  45. Janz N, Becker M. The Health Belief Model: a decade later. Health Educ Q. 1984;11:1-47 pubmed
    ..On the basis of the evidence compiled, it is recommended that consideration of HBM dimensions be a part of health education programming. Suggestions are offered for further research. ..
  46. Kersten E, Geerlings M, den Hollander A, de Jong E, Fauser S, Peto T, et al. Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene. JAMA Ophthalmol. 2017;135:1037-1044 pubmed publisher
    ..Phenotypical characteristics could help ophthalmologists select patients for additional genetic testing. To describe the phenotypical characteristics of patients with AMD carrying a rare variant in the CFH gene...
  47. Mucke L. Neuroscience: Alzheimer's disease. Nature. 2009;461:895-7 pubmed publisher
  48. Sharp R, Goldlust M, Eng C. Addressing gaps in physician education using personal genomic testing. Genet Med. 2011;13:750-1 pubmed publisher
  49. Tsunedomi R, Hazama S, Okayama N, Oka M, Nagano H. Rapid and sensitive detection of UGT1A1 polymorphisms associated with irinotecan toxicity by a novel DNA microarray. Cancer Sci. 2017;108:1504-1509 pubmed publisher
  50. Diehl S, Kuo F, Hart T. Interleukin 1 genetic tests provide no support for reduction of preventive dental care. J Am Dent Assoc. 2015;146:164-173.e4 pubmed publisher
    ..Further research is needed to identify genetic biomarkers with robust clinical validity and clinical utility to effectively personalize the practice of dentistry. ..
  51. Govindan R. INTERESTing biomarker to select IDEAL patients for epidermal growth factor receptor tyrosine kinase inhibitors: yes, for EGFR mutation analysis, others, I PASS. J Clin Oncol. 2010;28:713-5 pubmed publisher
  52. Daly M, Pilarski R, Axilbund J, Buys S, Crawford B, Friedman S, et al. Genetic/familial high-risk assessment: breast and ovarian, version 1.2014. J Natl Compr Canc Netw. 2014;12:1326-38 pubmed
    ..on the assessment of genetic mutations in BRCA1/BRCA2, TP53, and PTEN, and recommend approaches to genetic testing/counseling and management strategies in individuals with these mutations...
  53. Maron M. My approach to clinical management of hypertrophic cardiomyopathy. Trends Cardiovasc Med. 2014;24:314-5 pubmed publisher