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DNA (genetic) testing

For specific laboratory diagnostic tests, see molecular diagnostic test. Indications: - identification of genetic disorders Contraindications: - patients without family history of disease (including no family history available due to adoption) should not undergo genetic testing [12] - duplication genetic tests for inherited conditions unless there is concern about the first test's accuracy [9] - APOE genotyping to predict Alzheimer disease. - MTHFR genotyping to assess risk for hereditary thrombophilia - HFE genotyping for patients who don't have iron overload or a family history of HFE-associated hereditary hemochromatosis - exome or genome sequencing prior to getting informed consent that alerts patients of the possibility of incidental findings [9] * results of genetic testing may impact a person's ability to obtain health insurance or life insurance [12] Management: - patients with possible inherited disease should be referred for genetic testing only in the context of genetic counseling [3] - decisions about whether to offer genetic testing & screening for a child should be driven by the best interest of the child [4] - incidental findings unrelated to the reason for testing must also be reported [5] Notes: - The National Institute of Standards and Technology has developed "reference materials" to help ensure accuracy of DNA tests used to individualize patient treatments (personalized medicine) [7] - unclear whether direct to consumer marketing of genomic testing results in better health outcomes [11] - results of direct to consumer genetic testing should not influence healthcare decisions [12]

Related

cytogenetics molecular diagnostic test polymerase chain reaction (PCR) southern blot

Specific

23andME genetic testing chromosome analysis direct to consumer DNA (genetic) testing; Ancestry DNA testing fecal DNA testing genome sequencing MyProstateScore 2.0 (MPS2) prenatal genetic testing sperm DNA testing urine telomerase reverse transcriptase promotor gene mutation (uTERTpm) warfarin sensitivity testing (CYP2C8, CYP2C9, CYP4F2, VKORC1) zygosity DNA in buccal mucosa

General

clinical laboratory test

References

  1. GeneTests (NIH) http://www.geneclinics.org
  2. Prescriber's Letter 17(7): 2010 Home Genetic Testing Kits Detail-Document#: 260709 (subscription needed) http://www.prescribersletter.com
  3. Berg AO et al National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health. Ann Intern Med. 2009 Dec 15;151(12):872-7. PMID: 19884615
  4. Committee on Bioethics, Committee on Genetics, The American College of Medical Genetics, Genomics Socia, Ethical and Legal Issues Committee. Ethical and Policy Issues in Genetic Testing and Screening of Children. Pediatrics Feb 23, 2013 http://pediatrics.aappublications.org/content/early/2013/02/17/peds.2012-3680.full.pdf+html
  5. Green RC et al ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome sequencing. American College of Medical Genetics and Genomics http://www.acmg.net/docs/ACMG_Releases_Highly-Anticipated_Recommendations_on_Incidental_Findings_in_Clinical_Exome_and_Genome_Sequencing.pdf
  6. Heshka JT, Palleschi C, Howley H, Wilson B, Wells PS. A systematic review of perceived risks, psychological and behavioral impacts of genetic testing. Genet Med. 2008 Jan;10(1):19-32 PMID: 18197053
  7. Pear R U.S. Introduces New DNA Standard for Ensuring Accuracy of Genetic Tests New York Times. May 14, 2015 http://www.nytimes.com/2015/05/15/health/new-way-to-ensure-accuracy-of-dna-tests-us-announces.html?_r=0 - National Institute of Standards and Technology Material Details RM 8398 - Human DNA for Whole-Genome Variant Assessment (Daughter of Utah/European Ancestry) https://www-s.nist.gov/srmors/view_detail.cfm?srm=8398 - 105.8 - DNA Profiling and Nucleic Acid Materials (solid forms) https://www-s.nist.gov/srmors/viewTableV.cfm?tableid=50
  8. Agency for Healthcare Research and Quality Genetic Testing for Developmental Disabilities, Intellectual Disability, and Autism Spectrum Disorder. Effective Healthcare Program. Technical Brief June 30, 2015 http://www.effectivehealthcare.ahrq.gov/index.cfm/search-for-guides-reviews-and-reports/?pageaction=displayproduct&productid=2095
  9. ACGM News. July 10, 2015 ACMG Provides Recommendations on Genetic Testing Through the Choosing WiselyCampaign. https://www.acmg.net/docs/ACMG_ChoosingWisely_Final.pdf
  10. Robson ME, Bradbury AR, Arun B et al American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. J Clin Oncol, August 31, 2015 PMID: 26324357 http://jco.ascopubs.org/content/early/2015/08/31/JCO.2015.63.0996.abstract - Yu PP, Vose JM, Hayes DF Genetic Cancer Susceptibility Testing: Increased Technology, Increased Complexity. J Clin Oncol, August 31, 2015 PMID: 26324366 http://jco.ascopubs.org/content/early/2015/08/31/JCO.2015.63.3628.full
  11. van der Wouden CH et al. Consumer perceptions of interactions with primary care providers after direct-to-consumer personal genomic testing. Ann Intern Med 2016 Mar 1; PMID: 26928821 - Burke W, Burke W, Trinidad SB. The deceptive appeal of direct-to-consumer genetics. Ann Intern Med 2016 Mar 1 PMID: 26925528
  12. Medical Knowledge Self Assessment Program (MKSAP) 17, American College of Physicians, Philadelphia 2015
  13. Bellcross CA, Page PZ, Meaney-Delman D. Direct-to-consumer personal genome testing and cancer risk prediction. Cancer J. 2012 Jul-Aug;18(4):293-302. Review. PMID: 22846729