Ethics and equity in rare disease research and healthcare

Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing.

Citation:
Koromina M, Fanaras V, Baynam G, Mitropoulou C, Patrinos GP. Ethics and equity in rare disease research and healthcare. Personalized Med. 2021;18(4):407-16.

Keywords:
ELSI; LMICs; bioethics; ethical frameworks; genetics testing; genomics; patient engagement; patient recruitment; public health; rare diseases

Abstract:
Rapid advances in next-generation sequencing technology, particularly whole exome sequencing and whole genome sequencing, have greatly affected our understanding of genetic variation underlying rare genetic diseases. Herein, we describe ethical principles of guiding consent and sharing of genomics research data. We also discuss ethical dilemmas in rare diseases research and patient recruitment policies and address bioethical and societal aspects influencing the ethical framework for genetic testing.