TY - JOUR
T1 - Precision Medicine in Cardiovascular Disease
T2 - Genetics and Impact on Phenotypes: JACC Focus Seminar 1/5
AU - Semsarian, Christopher
AU - Ingles, Jodie
AU - Ross, Samantha Barratt
AU - Dunwoodie, Sally L.
AU - Bagnall, Richard D.
AU - Kovacic, Jason C.
N1 - Funding Information:
Dr. Semsarian is the recipient of a National Health and Medical Research Council (NHMRC) Practitioner Fellowship (#1154992). Drs. Semsarian and Bagnall are supported by a New South Wales Health Cardiovascular Disease Senior Scientist Grant. Dr. Ingles is the recipient of a NHMRC Career Development Fellowship (#1162929); and has received research grant support from Myokardia Inc. Dr. Dunwoodie is the recipient of a NHMRC Principal Research Fellowship (#1135886). Dr. Kovacic has received research support from the National Institutes of Health (R01HL130423, R01HL135093, R01HL148167-01A1) and New South Wales health grant RG194194.
Publisher Copyright:
© 2021 American College of Cardiology Foundation
PY - 2021/5/25
Y1 - 2021/5/25
N2 - Our understanding of the genetic basis of cardiovascular diseases (CVDs) has evolved rapidly. This has resulted from a combination of dedicated research in well phenotyped CVD patients, the sequencing of the human genome, and the ready accessibility and decreasing cost of next-generation sequencing technologies. This increased knowledge of the genetic basis of CVDs has heralded the era of precision medicine. This encompasses many elements including improved diagnosis, family screening, assistance with reproductive decisions, targeted therapeutics guided by both phenotype and genotype, and providing important insights into risk stratification and prognosis. Furthermore, novel insights into genetic mechanisms, clinical rollout of polygenic risk scores for common CVDs, and the promise of genome editing approaches to effectively cure disease represent some of the exciting future endeavors that will change established clinical approaches. This Part 1 of a 5-part series focuses on the underpinnings and fundamental aspects of precision medicine.
AB - Our understanding of the genetic basis of cardiovascular diseases (CVDs) has evolved rapidly. This has resulted from a combination of dedicated research in well phenotyped CVD patients, the sequencing of the human genome, and the ready accessibility and decreasing cost of next-generation sequencing technologies. This increased knowledge of the genetic basis of CVDs has heralded the era of precision medicine. This encompasses many elements including improved diagnosis, family screening, assistance with reproductive decisions, targeted therapeutics guided by both phenotype and genotype, and providing important insights into risk stratification and prognosis. Furthermore, novel insights into genetic mechanisms, clinical rollout of polygenic risk scores for common CVDs, and the promise of genome editing approaches to effectively cure disease represent some of the exciting future endeavors that will change established clinical approaches. This Part 1 of a 5-part series focuses on the underpinnings and fundamental aspects of precision medicine.
KW - cardiovascular
KW - genetics
KW - precision medicine
UR - http://www.scopus.com/inward/record.url?scp=85105606753&partnerID=8YFLogxK
U2 - 10.1016/j.jacc.2020.12.071
DO - 10.1016/j.jacc.2020.12.071
M3 - Review article
C2 - 34016265
AN - SCOPUS:85105606753
SN - 0735-1097
VL - 77
SP - 2517
EP - 2530
JO - Journal of the American College of Cardiology
JF - Journal of the American College of Cardiology
IS - 20
ER -
