Ethics and equity in rare disease research and healthcare

Maria Koromina, Vasileios Fanaras, Gareth Baynam, Christina Mitropoulou, George P. Patrinos

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish
Pages (from-to)407-416
Number of pages10
JournalPersonalized Medicine
Issue number4
Publication statusPublished - Jul 2021


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