Svetlana A Yatsenko

All Publications

• Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants. Human genetics Aminbeidokhti, M., Qu, J., Belur, S., Cakmak, H., Jaswa, E., Lathi, R. B., Sirota, M., Snyder, M. P., Yatsenko, S. A., Rajkovic, A. 2024

  Abstract

  PURPOSE: Miscarriage, often resulting from a variety of genetic factors, is a common pregnancy outcome. Preconception genetic carrier screening (PGCS) identifies at-risk partners for newborn genetic disorders; however, PGCS panels currently lack miscarriage-related genes. In this study, we evaluated the potential impact of both known and candidate genes on prenatal lethality and the effectiveness of PGCS in diverse populations.METHODS: We analyzed 125,748 human exome sequences and mouse and human gene function databases. Our goals were to identify genes crucial for human fetal survival (lethal genes), to find variants not present in a homozygous state in healthy humans, and to estimate carrier rates of known and candidate lethal genes in various populations and ethnic groups.RESULTS: This study identified 138 genes in which heterozygous lethal variants are present in the general population with a frequency of 0.5% or greater. Screening for these 138 genes could identify 4.6% (in the Finnish population) to 39.8% (in the East Asian population) of couples at risk of miscarriage. This explains the cause of pregnancy loss in approximately 1.1-10% of cases affected by biallelic lethal variants.CONCLUSION: This study has identified a set of genes and variants potentially associated with lethality across different ethnic backgrounds. The variation of these genes across ethnic groups underscores the need for a comprehensive, pan-ethnic PGCS panel that includes genes related to miscarriage.

  View details for DOI 10.1007/s00439-023-02637-y

  View details for PubMedID 38302665

• 2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics. Genetics in medicine : official journal of the American College of Medical Genetics Massingham, L. J., Nunez, S., Bernstein, J. A., Gardner, D. P., Parikh, A. S., Strovel, E. T., Quintero-Rivera, F., Association of Professors of Human and Medical Genetics Course Directors Special Interest Group Medical Education Core Curriculum Workgroup, Anderson, H., Ashfaq, M., Bernstein, J., Burke, L., Cross, C., Dhar, S., Garber, K., Gardner, D., Gold, J., Hudder, A., Hyland, K., Larsen, N., Massingham, L., Nunez, S., Parikh, A., Penney, L., Philp, A. R., Popejoy, A. B., Quintero-Rivera, F., Sobering, A. K., Starr, L., Strovel, E., Toriello, H. V., Weiler, T., Yatsenko, S. 2022

  Abstract

  PURPOSE: The field of genetics and genomics continues to expand at an unprecedented pace. As scientific knowledge is translated to clinical practice, genomic information is routinely being used in preventive, diagnostic, and therapeutic decision-making across a variety of clinical practice areas. As adoption of genomic medicine further evolves, health professionals will be required to stay abreast of new genetic discoveries and technologies and implementation of these advances within their scope of practice will be indicated.METHODS: The Association of Professors of Human and Medical Genetics previously developed medical school genetics core competencies, last updated in 2013. The competencies were reviewed and updated through a structured approach incorporating a modified Delphi method.RESULTS: The updated Association of Professors of Human and Medical Genetics core competencies are presented. Current revisions include competencies that are concise, specific, and assessable. In addition, they incorporate recent advances in clinical practice and promote equity and inclusion in clinical care.CONCLUSION: The 2022 competencies will serve as a guide for medical school leadership and educators involved in curriculum development, implementation, and assessment. Use of these competencies across the undergraduate medical curricula will foster knowledge, skills, and behaviors required in medical practice across a wide range of specialties.

  View details for DOI 10.1016/j.gim.2022.07.014

  View details for PubMedID 36040446