The challenges of the expanded availability of genomic information: an agenda-setting paper

Abstract

Rapid advances in microarray and sequencing technologies are making genotyping and genome sequencing more affordable and readily available. There is an expectation that genomic sequencing technologies improve personalized diagnosis and personalized drug therapy. Concurrently, provision of direct-to-consumer genetic testing by commercial providers has enabled individuals’ direct access to their genomic data. The expanded availability of genomic data is perceived as influencing the relationship between the various parties involved including healthcare professionals, researchers, patients, individuals, families, industry, and government. This results in a need to revisit their roles and responsibilities. In a 1-day agenda-setting meeting organized by the COST Action IS1303 “Citizen’s Health through public-private Initiatives: Public health, Market and Ethical perspectives,” participants discussed the main challenges associated with the expanded availability of genomic information, with a specific focus on public-private partnerships, and provided an outline from which to discuss in detail the identified challenges. This paper summarizes the points raised at this meeting in five main parts and highlights the key cross-cutting themes. In light of the increasing availability of genomic information, it is expected that this paper will provide timely direction for future research and policy making in this area.

Attitudes of publics who are unwilling to donate DNA data for research

“…discrimination) or used in ways not supported by the data contributors (Sterckx et al, 2016). Consequently, scholars have called for consistent ethical and legal frameworks that enable access across institutional and national jurisdictions that respect and protect individuals who have contributed data (Knoppers et al, 2014; Borry et al, 2018). Such regulatory frameworks in turn aim to meet the needs of people who currently refuse to participate in genetic research out of fear for genetic discrimination (Wauters and Van Hoyweghen, 2016).…”

Blockchain’s potential to address issues in genomics research and how it is being used today

“…1 Within genomics, genome sequencing allows scientists to investigate the relationships between genetics and disease and can help identify the genetic mutations that underlie diseases and ultimately provide personalized diagnoses and treatment interventions. 2 Advancements in DNA sequencing technologies have significantly decreased the cost of human genome sequencing, increasing the accessibility of genomic data to citizens at a price point under $1,000 USD. However, there are two issues associated with the increased volume of genomic sequencing data: First, the increased amount of genomic data requires substantial computational power and data storage.…”

Processing of Genetic Data under GDPR: Unresolved Conflict of Interests

“…(1) genetic data reveal information not only about the data subject, but also about his or her blood relatives and certain groups of persons to which he or she belongs; (2) as a rule, genetic information is unknown to the bearer him/herself and does not depend on the bearer's individual will since genetic data are non-modifiable; (3) genetic data can be easily obtained from raw materials; (4) genetic data may reveal more information in the future and be used by an increasing number of agencies for various purposes. 8 The document also mentions the risks of genetic data re-use that might occur, inter alia, through additional analysis of stored biological materials and provides detailed information on threats of using such data for the purposes connected with employment, 9 It should be noted that in the draft Regulation, submitted by the European Commission in 2012, genetic data are defined in a different way as "all data, of whatever type, concerning the characteristics of an individual which are inherited or acquired during early prenatal development". 12 The Working Document of the Article 29 Working Party sets out various definitions of genetic data which are taken from the Council of Europe Recommendation R (97) 5, Law of Luxembourg on the protection of persons with regard to the processing of personal data, and the International Declaration on Human Genetic Data adopted by UNESCO.…”