#318 Genetics Wrapped 2024: Top Advances in Genomic Medicine

2024/12/6

DNA Today: A Genetics Podcast

People

Bruce D. Gelb

Eric Green

Kira Dineen

Topics

Bruce D. Gelb: 本年度的ASHG会议强调了面对面交流对科学合作的重要性，并深入探讨了基因型与表现型之间差异（变异表达和不完全外显率）对基于人群的基因筛查的挑战。他认为，在将基因组学应用于公共卫生之前，需要对基因型与疾病表型之间的关系有更深入的了解。 Bruce D. Gelb还重点介绍了在基因组医学中如何改进结果的返回，特别是在服务于多样化人群方面。他强调了开发可扩展且易于访问的方法以应对大规模基因组筛查中阳性结果返回的挑战。此外，Gelb博士还强调了新生儿快速基因组测序在NICU中的应用，以及其在改善患儿健康和降低医疗成本方面的巨大潜力。他指出，尽管这项技术已经取得了显著进展，但仍有很大的改进空间，例如提高诊断准确率和解决结果解读的挑战。 Eric Green: NHGRI每年都会对基因组医学领域的重大进展进行总结，并发表在《美国人类遗传学杂志》上。2024年的总结报告显示，许多研究关注人类多样性和疾病预防。他认为，基因组学在疾病预防方面的应用越来越重要，这反映了该领域的进步。 Green博士还强调了多基因风险评分（PRS）在疾病预防中的应用，以及在不同人群中应用PRS的挑战。他认为，虽然PRS在疾病预防方面具有巨大潜力，但仍需要进一步的研究来提高其准确性和适用性。此外，Green博士还谈到了新生儿基因组测序的快速发展，以及这项技术在改善新生儿健康和降低医疗成本方面的潜力。他认为，这项技术在未来几年将得到广泛应用，并对医疗保健产生深远的影响。 Kira Dineen: 作为一名遗传咨询师，Dineen对基因组学在医疗保健中的应用，特别是CRISPR技术和新生儿基因组测序的快速发展表示兴奋。她强调了这些技术在改善患者健康和降低医疗成本方面的巨大潜力。 Dineen还关注到基因组学研究中存在的数据多样性问题，并强调了在不同人群中应用基因组学技术的必要性。她认为，解决数据多样性问题对于确保基因组学技术能够公平地惠及所有人至关重要。

Deep Dive

Key Insights

Why is the presidential address at the American Society of Human Genetics conference significant?

The presidential address is a significant honor and a platform to highlight pressing issues in human genetics, such as variable expressivity and incomplete penetrance, which are crucial for advancing population-based genetic screening and understanding genetic risks.

Why is the inclusion of diversity and ancestry in genomic medicine research important?

Diversity and ancestry are crucial in genomic medicine because they help ensure that polygenic risk scores and other genetic analyses are applicable and effective across different populations, addressing the historical bias towards European ancestry in genetic studies.

Why is the eMERGE consortium's work on polygenic risk scores significant?

The eMERGE consortium's work is significant because it is making polygenic risk scores more applicable to diverse populations, improving their predictive power and paving the way for better public health strategies.

Why is the CRISPR treatment for inherited retinal disease exciting?

The CRISPR treatment for inherited retinal disease is exciting because it shows promise in safely and effectively treating a common cause of blindness in children, potentially leading to FDA approval and widespread use.

Why is rapid genome sequencing in NICUs transformative?

Rapid genome sequencing in NICUs is transformative because it enables quick diagnoses for rare disorders, saving lives and improving healthcare outcomes, even as it continues to evolve and improve.

Why is the GIA tool important for genomic medicine implementation?

The GIA tool is important because it improves the return of genetic results to diverse patient populations, enhancing their understanding and making genomic medicine more scalable and accessible.

Why is the international context important for genomic medicine implementation?

The international context is important because it allows for the study of genomic medicine in various healthcare systems and cultures, providing valuable insights and improving the applicability and effectiveness of genomic approaches globally.

Shownotes Transcript

To celebrate the year coming to an end, we are reflecting back on the top genetics and genomics

Bruce D. Gelb, M.D. is the outgoing President of the American Society of Human Genetics (ASHG). He is also the Director and Gogel Family Professor of the Mindich Child Health and Development Institute at the Icahn School of Medicine at Mount Sinai. He is Professor of Pediatrics and of Genetics and Genomic Sciences. Dr. Gelb completed a pediatric residency and pediatric cardiology fellowship at Babies Hospital of Columbia-Presbyterian Medical Center and Texas Children’s Hospital at the Baylor College of Medicine, respectively. He joined the faculty at Mount Sinai in 1991 after fellowship and has remained there since. He developed and now oversees an extensive program in genomics/gene discovery for congenital heart disease. Dr. Gelb has received the E. Mead Johnson Award from the Society for Pediatric Research and the Norman J. Siegel New Member Outstanding Science Award from the American Pediatric Society. He was elected to the American Society of Clinical Investigation and the National Academy of Medicine (formerly, the Institute of Medicine). Dr. Gelb is the President for the American Pediatric Society, Immediate Past President for the International Pediatric Research Foundation and Treasurer-Elect for the American Society of Human Genetics. In addition to his research, he co-directs the Cardiovascular Genetics Program at Mount Sinai.

Dr. Eric Green is the director of the National Human Genome Research Institute (NHGRI)) at the U.S. National Institutes of Health (NIH). As NHGRI director, Dr. Green leads the Institute's research programs and other initiatives. He has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Dr. Green is a founding editor of the journal Genome Research (1995 - present) and a series editor of Genome Analysis: A Laboratory Manual (1994 - 1998), both published by Cold Spring Harbor Laboratory Press. He is also co-editor of Annual Review of Genomics and Human Genetics (since 2005). Throughout his career, he has authored and co-authored over 385 scientific publications.

Dr. Green is a recurring guest on *DNA Today, *and he might hold the title as the guest who has been on the show the most times! He was featured on Episode #182) when we chatted about the Human Genome Project) and the recent completion of the human genome sequence -- from telomere to telomere. Dr. Green was a panelist on the PhenoTips Speaker Series installment that our host Kira Dineen moderated about population genomics in clinical practice, this was also released on the DNA Today podcast feed as Episode #260). He was also on the last couple years for our genetics wrapped 2022 (#214)) and 2023 (#263)).

Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 300 other episodes on Apple Podcasts), Spotify), streaming on the website), or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel), this includes some episodes recorded at NBC Universal Stamford Studios.

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