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Ensuring the appropriate use of genetic tests

Abstract

Ensuring the correct use of genetic tests is an important challenge for health-policy makers. Many new genetic tests will identify susceptibility to common diseases or adverse drug responses. Some will lead to new prevention opportunities, but others will have minimal clinical value. Statutory regulation alone cannot guarantee appropriate use. Other strategies, including resource allocation and matters related to clinical governance — such as practice-guideline development and health-provider education — are also important.

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Figure 1: The discovery of a gene–disease association lays the groundwork for the development of a genetic test.

References

  1. 1

    Collins, F. S. Shattuck lecture — medical and societal consequences of the Human Genome Project. N. Engl. J. Med. 341, 28–37 (1999).

    CAS  Article  Google Scholar 

  2. 2

    Roses, A. D. Pharmacogenetics and the practice of medicine. Nature 405, 857–865 (2000).

    CAS  Article  Google Scholar 

  3. 3

    Holtzman, N. A. & Watson, M. S. Promoting Safe and Effective Genetic Testing in the United States. Final Report of the Task Force on Genetic Testing (Johns Hopkins, Baltimore, 1999).

    Google Scholar 

  4. 4

    Godard, B., ten Kate, L., Evers-Kiebooms, G. & Ayme, S. Population genetic screening programmes: principles, techniques, practices, and policies. Eur. J. Hum. Genet. 11 (Suppl. 2), 49–87 (2003).

    Article  Google Scholar 

  5. 5

    Reich, L. M., Bower, M. & Key, N. S. Role of the geneticist in testing and counseling for inherited thrombophilia. Genet. Med. 5, 133–143 (2003).

    Article  Google Scholar 

  6. 6

    Juul, K., Tybyaerg-Hansen, A., Schnohr, P. & Nordestgaard, B. G. Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. Ann. Intern. Med. 140, 330–337 (2004).

    CAS  Article  Google Scholar 

  7. 7

    Humphries, S. E., Ridker, P. M. & Talmud, P. J. Genetic testing for cardiovascular disease susceptibility: a useful clinical management tool or possible misinformation? Arterioscler. Thromb. Vasc. Biol. 24, 628–636 (2004).

    CAS  Article  Google Scholar 

  8. 8

    Marteau, T. M. & Lerman, C. Genetic risk and behavioural change. BMJ 322, 1056–1059 (2001).

    CAS  Article  PubMed  Google Scholar 

  9. 9

    Mayeux, R. & Schupf, N. Apolipoprotein E and Alzheimer's disease: the implications of progress in molecular medicine. Am. J. Public Health 85, 1280–1284 (1995).

    CAS  Article  PubMed  Google Scholar 

  10. 10

    Patten, S., Barton, D. & Elles, R. Retaining the confidence of the public in molecular genetic testing. Commun. Genet. 3, 164–169 (2000).

    Google Scholar 

  11. 11

    Ibarratta, D., Bock, A. K., Klein, C. & Rodriguez-Cerezo E. Towards quality assurance and harmonization of genetic testing services in Europe: current practices and issues, <http://esto.jrc.es/detailshort.cfm?ID_report=1124> (2003).

    Google Scholar 

  12. 12

    Centers for Medicare & Medicaid Services CLIA program: Clinical Laboratory Improvement Amendments, <http://www.cms.hhs.gov/clia/> (2004).

  13. 13

    Secretary's Advisory Committee on Genetic Testing. Enhancing the oversight of genetic tests: recommendations of the SACGT, <http://www4.od.nih.gov/oba/sacgt/reports/oversight_report.pdf> (National Institutes of Health, July, 2000).

  14. 14

    Secretary's Advisory Committee on Genetic Testing. Thirteenth meeting, <http://www4.od.nih.gov/oba/sacgt/transcript5-14-02.pdf> and <http://www4.od.nih.gov/oba/sacgt/transcript5-15-02.pdf> (14 and 15 May, 2002).

  15. 15

    US Department of Health and Human Services, Food and Drug Administration, Center for Drug Evaluation and Research, Center for Biologics Evaluation and Research & Center for Devices and Radiological Health. Guidance for industry: pharmacogenomic data submissions, <http://www.fda.gov/cder/guidance/5900dft.pdf> (November, 2003).

  16. 16

    Tabloid Prescribing information, <http://www.fda.gov/medwatch/SAFETY/2003/03DEC_PI/Tabloid_PI.pdf> (2003).

  17. 17

    UK Human Genetics Commission. Genes direct: ensuring the effective oversight of genetic tests supplied directly to the public, <http://www.hgc.gov.uk/genesdirect/> (2003).

  18. 18

    US General Accounting Office. Prescription drugs: FDA oversight of direct to consumer advertising has limitations, <http://www.gao.gov/atext/d03177.txt> (2003).

  19. 19

    Specter, M. Miracle in a bottle. New Yorker 64–75 (2 Feb 2004).

  20. 20

    McGleenan, T. Legal and policy issues in genetics and insurance. Commun. Genet. 3, 45–49 (2000).

    CAS  Google Scholar 

  21. 21

    Godard, B. et al. Genetic information and testing in insurance and employment: technical, social and ethical issues. Eur. J. Hum. Genet. 11 (Suppl. 2), 123–142 (2003).

    Article  Google Scholar 

  22. 22

    Hall, M. A. & Rich, S. S. Laws restricting health insurers' use of genetic information: impact on genetic discrimination. Am. J. Hum. Genet. 66, 293–307 (2000).

    CAS  Article  Google Scholar 

  23. 23

    UK Human Genetics Commission. Inside information: balancing interests in the use of personal and genetic data, <http://www.hgc.gov.uk/insideinformation/> (2003).

  24. 24

    Institute of Medicine. Guidelines for Clinical Practice: from Development to Use (National Academy Press, Washington DC, 1992).

  25. 25

    Woolf, S. H. Evidence-based medicine and practice guidelines: an overview. Cancer Control 7, 362–367 (2000).

    CAS  Article  Google Scholar 

  26. 26

    Miller, J. & Petrie, J. Development of practice guidelines. Lancet 355, 82–83 (2000).

    CAS  Article  Google Scholar 

  27. 27

    Childs, B. & Valle, D. Genetics, biology and disease. Annu. Rev. Genomics Hum Genet. 1, 1–19 (2000).

    CAS  Article  Google Scholar 

  28. 28

    Wilcken, B. Rare diseases and the assessment of intervention: what sorts of clinical trials can we use? J. Inherit. Metab. Dis. 24, 291–298 (2001).

    CAS  Article  Google Scholar 

  29. 29

    Brandi, M. L. et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J. Clin. Endocrinol. Metab. 86, 5658–5671 (2001).

    CAS  Article  Google Scholar 

  30. 30

    US Preventive Services Task Force. Guide to clinical preventive services (Williams & Wilkins, Baltimore, Maryland, 1996).

  31. 31

    Davies, S. C. et al. Screening for sickle cell disease and thalassaemia: a systematic review with supplementary research. Health Technol. Assess. 4, 1–99 (2000).

    Google Scholar 

  32. 32

    Zeuner, D. et al. Antenatal and neonatal haemoglobinopathy screening in the UK: review and economic analysis. Health Technol. Assess. 3, 1–186 (1999).

    Google Scholar 

  33. 33

    Press, R. D., Bauer, K. A., Kujovich, J. L. & Heit, J. A. Clinical utility of factor V leiden (R506Q) testing for the diagnosis and management of thromboembolic disorders. Arch. Pathol. Lab. Med. 126, 1304–1318 (2002).

    Google Scholar 

  34. 34

    Grody, W. W., Griffin, J. H., Taylor, A. K., Korf, B. R. & Heit, J. A. American College of Medical Genetics consensus statement on factor V Leiden mutation testing. Genet. Med. 3, 139–148 (2001).

    CAS  Article  PubMed  Google Scholar 

  35. 35

    Holtzman, N. A. & Marteau, T. M. Will genetics revolutionize medicine? N. Engl. J. Med. 343, 141–144 (2000).

    CAS  Article  PubMed  Google Scholar 

  36. 36

    Nebert, D. W., Jorge-Nebert, L. & Vesell, E. S. Pharmacogenomics and “individualized drug therapy”: high expectations and disappointing achievements. Am. J. Pharmacogenomics 3, 361–370 (2003).

    Article  Google Scholar 

  37. 37

    Burke, W. & Emery, J. Genetics education for primary-care providers. Nature Rev. Genet. 3, 561–566 (2002).

    CAS  Article  Google Scholar 

  38. 38

    Godard, B. et al. Provision of genetic services in Europe: current practices and issues. Eur. J. Hum. Genet. 11 (Suppl. 2), 13–48 (2003).

    Article  Google Scholar 

  39. 39

    National Coalition for Health Professional Education in Genetics. Preparing health professionals for the genomics revolution, <http://www.nchpeg.org/> (2004).

  40. 40

    Burton, H., Shuttleworth, A. & Metcalfe, A. Genetics education for nurses, midwives and health visitors. Prof. Nurse 18, 676–680 (2003).

    Google Scholar 

  41. 41

    Ramsey, S. Economic analyses and clinical practice guidelines: why not a match made in heaven. J. Gen. Intern. Med. 17, 235–237 (2002).

    Article  PubMed  Google Scholar 

Download references

Acknowledgements

This work was supported in part by the US National Human Genome Research Institute (W.B.). The Public Health Genetics Unit is funded by the UK Departments of Health and the Wellcome Trust. The views expressed are those of the authors and do not necessarily reflect the views or positions of the authors' affiliations.

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Correspondence to Wylie Burke.

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The authors declare no competing financial interests.

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DATABASES

OMIM

Phenylketonuria

Alzheimer disease

multiple endocrine neoplasia type 2

BRCA1

BRCA2

FURTHER INFORMATION

EU In-Vitro Diagnostics Directive 98/79/EC

Glossary

ANALYTIC VALIDITY

The accuracy with which a particular genetic characteristic — such as a DNA sequence variant, chromosomal deletion or biochemical indicator — can be identified in a given laboratory test.

CLINICAL UTILITY

The risks and benefits resulting from test use.

CLINICAL VALIDITY

The accuracy with which a test identifies or predicts a patient's clinical status.

PERSONALIZED MEDICINE

The use of genetic susceptibility or pharmacogenetic testing to tailor an individual's preventive care or drug therapy.

PHARMACOGENETICS

The study of drug responses related to inherited genetic differences.

PHENYLKETONURIA

A genetic condition resulting in the inability to metabolize normal amounts of the amino acid phenylalanine. Mental retardation occurs if the condition is untreated, but can be prevented by the initiation of a phenylalanine-restricted diet in the newborn period.

THIOGUANIONE

An anti-metabolite medication used to treat some kinds of cancer.

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Burke, W., Zimmern, R. Ensuring the appropriate use of genetic tests. Nat Rev Genet 5, 955–959 (2004). https://doi.org/10.1038/nrg1495

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