Department of Pharmacy, Laboratory of Pharmacogenomics & Individualized Therapy, School of Health Sciences, University of Patras, Patras, Greece.
The Golden Helix Foundation, London, UK.
Per Med. 2021 Jul;18(4):407-416. doi: 10.2217/pme-2020-0144. Epub 2021 Jun 4.
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.
下一代测序技术的快速发展，特别是外显子组测序和全基因组测序，极大地影响了我们对罕见遗传病遗传变异基础的理解。在此，我们描述了指导同意和基因组学研究数据共享的伦理原则。我们还讨论了罕见病研究和患者招募政策中的伦理困境，并探讨了影响遗传检测伦理框架的生物伦理和社会方面。此外，我们专注于解决在低收入和中等收入国家进行研究时所涉及的伦理问题。总的来说，本观点旨在解决构建适当伦理框架的关键方面和问题，特别强调涉及罕见疾病和基因检测的基因组学数据研究。
