Opportunities and Challenges in Interpreting and Sharing Personal Genomes

Abstract

The 2019 “Personal Genomes: Accessing, Sharing and Interpretation” conference (Hinxton, UK, 11–12 April 2019) brought together geneticists, bioinformaticians, clinicians and ethicists to promote openness and ethical sharing of personal genome data while protecting the privacy of individuals. The talks at the conference focused on two main topic areas: (1) Technologies and Applications, with emphasis on personal genomics in the context of healthcare. The issues discussed ranged from new technologies impacting and enabling the field, to the interpretation of personal genomes and their integration with other data types. There was particular emphasis and wide discussion on the use of polygenic risk scores to inform precision medicine. (2) Ethical, Legal, and Social Implications, with emphasis on genetic privacy: How to maintain it, how much privacy is possible, and how much privacy do people want? Talks covered the full range of genomic data visibility, from open access to tight control, and diverse aspects of balancing benefits and risks, data ownership, working with individuals and with populations, and promoting citizen science. Both topic areas were illustrated and informed by reports from a wide variety of ongoing projects, which highlighted the need to diversify global databases by increasing representation of understudied populations.

A Review on the Challenges in Indian Genomics Research for Variant Identification and Interpretation

“…The "Personal Genomes: Accessing, Sharing and Interpretation" conference held in the United Kingdom, in April 2019 (Genetics Society, 2019) addressed several conundrums which hinder sharing of genetic and medical data, for the creation and maintenance of genomic databases. There is also a growing segment of users who are open to sharing their de-identified data (Kim et al, 2015;Rubin and Glusman, 2019). They share their data for getting updates on their health reports, for providing social good or for financial compensation (Hendricks-Sturrup and Lu, 2020).…”

Editorial: Personal Genomes: Accessing, Sharing, and Interpretation

“…On April 11-12, 2019, we helped organize the First Personal Genomes Conference at the Wellcome Genome Campus, Hinxton, UK, to discuss issues around personal genomic data access, sharing, and interpretation (Rubin and Glusman, 2019). In this Research Topic in Frontiers in Genetics, we collected a selection of representative research related to the Conference's topics revolving around the themes of (a) personal genetic testing, (b) interpretation of personal genomes, (c) personal genomics citizen science, (d) return of data to genome research participants, (e) data protection, privacy and the ethics of data sharing, and (f) clinical perspective-from patients to the public.…”