Ethics and equity in rare disease research and healthcare

Scientific publication - Journal Article uoadl:2946971 7 Read counter

Unit:
Department of Social Theology and the Study of Religion
Title:
Ethics and equity in rare disease research and healthcare
Languages of Item:
English
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. Moreover,
we focus on addressing ethical issues surrounding research in low- and middle-income countries.
Overall, this perspective aims to address key aspects and issues for building proper ethical frameworks,
when conducting research involving genomics data with a particular emphasis on rare diseases and genetics
testing.
Publication year:
2021
Authors:
Maria Koromina
Vasileios Fanaras
Gareth Baynam
Christina Mitropoulou
George P Patrinos
Journal:
Personalized Medicine
Publisher:
Future Medicine Ltd
Volume:
4
Number:
2
Pages:
1-10
Keywords:
bioethics • ELSI • ethical frameworks • genetics testing • genomics • LMICs • patient engagement • patient recruitment • public health • rare diseases
Main subject category:
Health Sciences
Official URL (Publisher):
DOI:
10.2217/pme-2020-0144
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