TY - JOUR
TI - Ethics and equity in rare disease research and healthcare
AU - Maria Koromina
AU - Vasileios Fanaras
AU - Gareth Baynam
AU - Christina Mitropoulou
AU - George P Patrinos
JO - Personalized Medicine
PY - 2021
VL - 4
TODO - 2
SP - 1-10
PB - Future Medicine Ltd
SN - 1741-0541
TODO - 10.2217/pme-2020-0144
TODO - bioethics • ELSI • ethical frameworks • genetics testing • genomics • LMICs • patient engagement • patient recruitment • public health • rare diseases
TODO - 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.
ER -