Genetic Counseling Practice in Next Generation Sequencing Research: Implications for the Ethical Oversight of the Inform
- PDF / 242,606 Bytes
- 10 Pages / 595.276 x 790.866 pts Page_size
- 5 Downloads / 176 Views
ORIGINAL RESEARCH
Genetic Counseling Practice in Next Generation Sequencing Research: Implications for the Ethical Oversight of the Informed Consent Process Nathalie Egalite & Iris Jaitovich Groisman & Beatrice Godard
Received: 31 May 2013 / Accepted: 14 February 2014 # National Society of Genetic Counselors, Inc. 2014
Abstract The potential for next generation sequencing research (NGS) to generate individual genetic results could have implications for the informed consent process and the provision of genetic counseling. We undertook a content analysis of informed consent templates and guidelines produced by Canadian institutional review boards, purposively sampling documents used by researchers to obtain consent from participants in genetics studies. Our goal was to examine the extent to which the informed consent documents addressed genetic counseling and the return of individual genetic results. Our analysis reveals that the majority of informed consent documents did not mention genetic counseling while several did not mention the return of results. We found differences in the ways in which documents addressed availability of counseling, eligibility criteria for referral to a genetic counselor, genetic counselor involvement, provision of services to family members of participants and incidental findings. From an ethical standpoint, consent documents should provide appropriate information so that participants may make an informed decision about their participation in research. The need to ensure adequate counseling for study populations in an NGS research context will necessarily involve adapting values that underlie care in genetic counseling practice. If the interests of research participants are to be truly promoted, the drafting and review of informed consent documents should give proper due to genetic counseling.
N. Egalite : I. J. Groisman : B. Godard (*) Groupe de recherche Omics-Ethics, Programmes de bioéthique, École de santé publique, Université de Montréal, C.P. 6128, succ. Centre-ville, Montreal, Quebec H3C 3J7, Canada e-mail: [email protected]
Keywords Genetic counseling . Next generation sequencing . Informed consent . Genetic research . Return of results . Incidental findings . Consent forms . Ethical issues
Introduction By way of elucidating the causative genes of Mendelian disorders and complex trait diseases (Bras et al. 2012; Gilissen et al. 2012; Kiezun et al. 2012; Panoutsopoulou et al. 2013), next generation sequencing (or NGS) is promising to bring about novel ways of diagnosing, treating and counseling individual patients. The massive parallelization of DNA sequencing—and along with it the ability to produce millions of sequences at once—has heralded NGS approaches well-suited to finding genetic variants (Brenner et al. 2000; Metzker 2010). Whole genome sequencing (WGS) and whole exome sequencing (WES) have emerged as popular NGS approaches and are increasingly being used in research projects both as the primary means of identifying rare penetrant mutations to analyze data
Data Loading...
