Precision Medicine in Cardiovascular Disease: Genetics and Impact on Phenotypes: JACC Focus Seminar 1/5.

@article{Semsarian2021PrecisionMI,
  title={Precision Medicine in Cardiovascular Disease: Genetics and Impact on Phenotypes: JACC Focus Seminar 1/5.},
  author={Christopher Semsarian and Jodie Ingles and Samantha Barratt Ross and Sally L. Dunwoodie and Richard D. Bagnall and Jason C. Kovacic},
  journal={Journal of the American College of Cardiology},
  year={2021},
  volume={77 20},
  pages={
          2517-2530
        }
}
The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic
TLDR
A framework for prioritising likely monogenic cases to solve their underlying cause of disease is proposed, and the value of genomics is demonstrated in reaching an overall diagnosis, and inequities based on ancestry are highlighted.
Editor-in-Chief's Top Picks From 2021.
  • V. Fuster
  • Medicine
    Journal of the American College of Cardiology
  • 2022
A Massively Parallel Trafficking Assay Accurately Predicts Loss of Channel Function in KCNH2 Variants
TLDR
It is suggested massively parallel trafficking assays can provide prospective and accurate functional assessment for all missense variants in KCNH2 and most likely many other ion channels and membrane proteins.

References

SHOWING 1-10 OF 55 REFERENCES
Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide.
Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
TLDR
Genetic testing is indicated for cardiomyopathy to assist in patient care and management of at-risk family members and for clinical approaches to secondary findings from cardiopathy genes.
Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives.
Beyond the One Gene-One Disease Paradigm.
TLDR
The evidence that variants in multiple genes converge to generate one clinical phenotype is explored, and the evidence that variations in one gene can lead to apparently unrelated phenotypes is explored.
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease
TLDR
Interrogating GS data using the two-tiered method allowed identification of variants with high clinical utility in a third of a heterogeneous cohort of CHD patients, but association of emerging genes with CHD etiology, and development of novel technologies for variant assessment and interpretation will increase diagnostic yield during future reassessment of the data.
Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults
Application of Genetic Testing in Hypertrophic Cardiomyopathy for Preclinical Disease Detection
TLDR
Commercial genetic testing for HCM now often comprises vast cardiac gene chips (ie, 50–200 or more genes), and this approach, although comprehensive, also draws into sharp focus the limitations of current knowledge.
Electronic health records and polygenic risk scores for predicting disease risk
TLDR
The authors review the opportunities and challenges that arise when using EHR data for the systematic evaluation of patient disease susceptibilities and present the unique considerations for using genotype and phenotype data from biobank-linked EHRs for polygenic risk prediction.
...
...