A ‘joint venture’ model of recontacting in clinical genomics: challenges for responsible implementation

European Journal of Medical Genetics

Volumn 60, Issue 7, 2017, Pages 403-409

  Dheensa, Sandi ^a,b   Carrieri, Daniele ^c   Kelly, Susan ^c   Clarke, Angus ^d   Doheny, Shane ^d   Turnpenny, Peter ^c,e   Lucassen, Anneke ^a,b,f  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c UNIVERSITY OF EXETER   (United Kingdom)

^d CARDIFF UNIVERSITY   (United Kingdom)

^e Devon and Exeter Hospital   (United Kingdom)

^f UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Clinical genetics; Data sharing; Ethics; Genomics; Patients; Recontacting

Indexed keywords

CHEMICAL BINDING; CLINICAL GENETICS; DOCTOR PATIENT RELATION; ELECTRONIC HEALTH RECORD; ETHICS; GENETIC SCREENING; GENOMICS; HEALTH CARE PERSONNEL; HUMAN; INTERVIEW; JOINT VENTURE; MODEL; PRIVACY; RESPONSIBILITY; SYMPTOM; DUTY TO RECONTACT; GENETIC PRIVACY; GENETIC SERVICE; STANDARDS;

DUTY TO RECONTACT; GENETIC PRIVACY; GENETIC SERVICES; GENOMICS; HEALTH PERSONNEL; HUMANS;

EID: 85019369775     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2017.05.001     Document Type: Article

References (37)

1. ACMG Board of Directors, Laboratory and clinical genomic data sharing is crucial to improving genetic health care: a position statement of the American College of Medical Genetics and Genomics. Genet. Med., 2017, 10.1038/gim.2016.196.
2. Ali-Khan, S.E., Daar, A.S., Shuman, C., Ray, P.N., Scherer, S.W., Whole genome scanning: resolving clinical diagnosis and management amidst complex data. Pediatr. Res. 66 (2009), 357–363.
3. Andrews, L.B., Torts and the double helix: malpractice liability for failure to warn of genetic risks. Houst Law Rev. 29 (1992), 149–184.
4. Brown, K.L., Moglia, D.M., Grumet, S., Genetic counseling for breast cancer risk: general concepts, challenging themes and future directions. Breast Dis. 27 (2006), 69–96.
5. Carrieri, D., Lucassen, A.M., Clarke, A.J., et al. Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom. Genet. Med. 18:9 (2016), 876–881.
6. Carrieri, D., Dheensa, S., Doheny, S., Clarke, A., Turnpenny, P., Lucassen, A., Kelly, S., Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom. Eur. J. Hum. Genet., 2017, 10.1038/ejhg.2016.188.
7. Carrieri, D., Dheensa, S., Doheny, S., et al. Recontacting in clinical genetics and genomic medicine? We need to talk about it. Eur. J. Hum. Genet., 2017, 10.1038/ejhg.2017.8.
8. Chen, S.C., Berkman, B.E., Hull, S.C., Recontacting participants for expanded uses of existing samples and data: a case study. Genet. Med., 2017, 10.1038/gim.2016.207.
9. Clayton, E.W., Haga, S., Kuszler, P., Bane, E., Shutske, K., Burke, W., Managing incidental genomic findings: legal obligations of clinicians. Genet. Med. 15 (2013), 624–629.
10. rd ed., 2015, SAGE Publications, Thousand Oaks, USA.
11. Coulter, A., Collins, A., Making Shared Decision-making a Reality. No Decision about Me, without Me. 2011, King's Fund, London Available at: https://www.kingsfund.org.uk/sites/files/kf/Making-shared-decision-making-a-reality-paper-Angela-Coulter-Alf-Collins-July-2011_0.pdf Accessed 7 February 2017.
12. Giardina, T.D., Menon, S., Parrish, D.E., Sittig, D.F., Singh, H., Patient access to medical records and healthcare outcomes: a systematic review. J. Am. Med. Inf. Assoc. 21:4 (2014), 737–741.
13. Griffin, C.A., Axilbund, J.E., Codori, A.M., et al. Patient preferences regarding recontact by cancer genetics clinicians. Fam. Cancer 6 (2007), 265–273.
14. Hastings, R., de Wert, G., Fowler, B., et al. The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe. Eur. J. Hum. Genet. 20 (2012), 911–916.
15. Hunter, A.G., Sharpe, N., Mullen, M., Meschino, W.S., Ethical, legal, and practical concerns about recontacting patients to inform them of new information: the case in medical genetics. Am. J. Med. Genet. 103 (2001), 265–276.
16. Letendre, M., Godard, B., Expanding the physician's duty of care: a duty to recontact?. Med. Law 23 (2004), 531–539.
17. Mackley, M.P., Fletcher, B., Parker, M., Watkins, H., Ormondroyd, E., Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies. Genet. Med., 2017, 10.1038/gim.2016.109.
18. Mulla, E., Severe lack of investment in electronic infrastructure in the NHS. BMJ, 351, 2015, h4170.
19. Murray, M.L., Cerrato, F., Bennett, R.L., Jarvik, G.P., Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: variant reclassification and surgical decisions. Genet. Med. 13 (2011), 998–1005.
20. Otten, E., Plantinga, M., Birnie, E., et al. Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature. Genet. Med. 17:8 (2014 Dec 11), 668–678.
21. O'Connor, M.R., Patient and Genetics Health Care Providers Attitudes Regarding Recontact. [Thesis], 2014, University of Pittsburgh, Pittsburgh, PA.
22. Pelias, M.Z., Duty to disclose in medical genetics: a legal perspective. Am. J. Med. Genet. 39 (1991), 347–354.
23. Pelias, M.Z., The duty to disclose to relatives in medical genetics – response. Am. J. Med. Genet. 42 (1992), 759–776.
24. Peshkin, B.N., Burke, W., Bioethics of genetic testing for hereditary breast cancer. Isaacs, C., Rebbeck, T.R., (eds.) Hereditary Breast Cancer, 2007, Informa Healthcare USA, New York, 35–49.
25. Prainsack, B., Why we should stop talking about data sharing. Available at: http://dnadigest.org/why-we-should-stop-talking-about-data-sharing/ Accessed 7 February 2017.
26. Pyeritz, R.E., The coming explosion in genetic testing–is there a duty to recontact?. N. Engl. J. Med. 365 (2011), 1367–1369.
27. Sexton, A.C., Metcalfe, S.A., Disclosing genetic research results after death of pediatric patients. JAMA 300 (2008), 1693–1695.
28. Sexton, A.C., Sahhar, M., Thorburn, D.R., Metcalfe, S.A., Impact of a genetic diagnosis of a mitochondrial disorder 5-17 years after the death of an affected child. J. Genet. Couns. 17 (2008), 261–273.
29. Sharpe, N.F., The duty to recontact: benefit and harm. Am. J. Hum. Genet. 65 (1999), 1201–1204.
30. Shirts, B.H., Parker, L.S., Changing interpretations, stable genes: responsibilities of patients, professionals, and policy makers in the clinical interpretation of complex genetic information. Genet. Med. 10 (2008), 778–783.
31. Shoenbill, K., Fost, N., Tachinardi, U., Mendonca, E.A., Genetic data and electronic health records: a discussion of ethical, logistical and technological considerations. J. Am. Med. Inf. Assoc. 21:1 (2014), 171–180.
32. Siu, L.L., Lawler, M., Haussler, D., et al. Facilitating a culture of responsible and effective sharing of cancer genome data. Nat. Med. 22:5 (2016), 464–471.
33. The 2009 German Genetic Diagnosis Act (GenDG) Section 8 Para 3-4.
34. Townsend, A., Adam, S., Birch, P.H., Lohn, Z., Rousseau, F., Friedman, J.M., “I want to know what's in Pandora's box”: comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing. Am. J. Med. Genet. Part A 158:10 (2012), 2519–2525.
35. Tudor, Hart J., The inverse care law. Lancet 297:7696 (1971), 405–412.
36. Wouters, R.H., Bijlsma, R.M., Ausems, M.G., Delden, J.J., Voest, E.E., Bredenoord, A.L., Am I my Family's Keeper? Disclosure dilemmas in next-generation sequencing. Hum. Mut. 37:12 (2016), 1257–1262.
37. Wynia, M., Dunn, K., Dreams and nightmares: practical and ethical issues for patients and physicians using personal health records. J. Law Med. Ethics 38 (2010), 64–73.