Informed consent for whole-genome sequencing studies in the clinical setting. Proposed recommendations on essential content and process

Abstract

The development of new massive sequencing techniques has now made it possible to significantly reduce the time and costs of whole-genome sequencing (WGS). Although WGS will soon become a routine testing tool, new ethical issues have surfaced. In light of these concerns, a systematic review of papers published by expert authors on IC or specific ethical issues related to IC for WGS analysis in the clinical setting has been conducted using the Pubmed, Embase and Cochrane Library databases. Additionally, a search was conducted for international ethical guidelines for genetic studies published by scientific societies and ethical boards. Based on these documents, a minimum set of information to be provided to patients in the IC form was determined. Fourteen and seven documents from the database search and from scientific societies, respectively, were selected. A very high level of consistency between them was found regarding the recommended IC form content. Pre-test counselling and general information common to all genetic tests should be included in the IC form for WGS for diagnostic purposes, but additional information addressing specific issues on WGS are proposed, such as a plan for the ethical, clinically oriented return of incidental findings. Moreover, storage of additional information for future use should also be agreed upon with the patient in advance. Recommendations for WGS studies in the clinical setting concerning both the elements of information and the process of obtaining the IC as well as how to handle the results obtained are proposed.

Returning pharmacogenetic secondary findings from genome sequencing: let’s not put the cart before the horse

“…Many researchers have already investigated the expectations, views, and attitudes toward receiving (secondary) findings from sequencing among African Americans 3 and non-African Americans 4 ; among genetic, 5 pediatric, 6 primary care, 7 and nonmedical health professionals 8 ; and about sequencing in patients with Lynch syndrome 9 as well as newborns 10 and children. 11 Several studies went beyond views and addressed intentions, 12 knowledge, awareness, and understanding 13 ; whereas others focused on the practical aspects of how to integrate sequencing in health-care practice 14 ; how to deliver the service 15 ; how to prepare different health professionals such as nurses 16 and genetic counselors 17 for their role in the delivery; how to design the patient report 18 ; and how to handle informed consent in adults, 19 children, 20 and in families with genetic disease. 21 We already have a glimpse of the usefulness 22 and cost-effectiveness of returning secondary findings.…”

Sekvenciranje celog genoma - prakticna ogranicenja i eticke dileme

“…Prve primene novih tehnologija sekvenciranja za beležene su krajem prethodne decenije, u oblastima dija gnostike retkih naslednih bolesti, ispitivanja kompleksnih oboljenja i profilisanja tumora radi prilagođavanja tera pijskih protokola (5). Tradicionalno genetsko testiranje ograničeno je na mali broj gena koji se biraju na osnovu prethodno utvrđene verovatnoće da će u datom oboljenju biti mutirani.…”

Human Bio banking as a Team and a Networking project

“…All the health stakeholders should be therefore aware of the bio bank relevance. As an example, the application of broad consent and of study specific consent (both opt-in methods) is very complex and debated [10]. A major challenge is represented by proposing an appropriate informed consent for the collection and storage of biological specimens and by obtaining adequate clinical data for future use, when there is no specific aim at time of collection.…”