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Genetic Testing for Familial Hypercholesterolemia in Clinical Practice

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Abstract

Purpose of Review

Genetic testing has proven utility in identifying and diagnosing individuals with FH. Here we outline the current landscape of genetic testing for FH, recommendations for testing practices and the efforts underway to improve access, availability, and uptake.

Recent Findings

Alternatives to the traditional genetic testing and counseling paradigm for FH are being explored including expanding screening programs, testing in primary care and/or cardiology clinics, leveraging electronic communication tools like chatbots, and implementing direct contact approaches to facilitate genetic testing of both probands and at-risk relatives.

Summary

There is no consensus on if, when, and how genetic testing or accompanying genetic counseling should be provided for FH, though traditional genetic counseling and/or testing in specialty lipid clinics is often recommended in expert statements and professional guidelines. More evidence is needed to determine whether alternative approaches to the implementation of genetic testing for FH may be more effective.

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Data Availability

No data was collected for this manuscript.

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Authors and Affiliations

  1. Family Heart Foundation, Pasadena, CA, USA

    Eric P. Tricou

  2. Genomic Medicine Institute, Geisinger, Danville, PA, USA

    Kelly M. Morgan & Megan Betts

  3. Precision Medicine Center-Medical Group, WellSpan, York, PA, USA

    Megan Betts

  4. 23andMe, Sunnyvale, CA, USA

    Amy C. Sturm

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  1. Eric P. Tricou
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  2. Kelly M. Morgan
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  3. Megan Betts
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  4. Amy C. Sturm
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Correspondence to Eric P. Tricou.

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Amy Sturm reports personal fees from NLA and non-financial support from NLA, outside the submitted work; and Leadership or fiduciary role in other board, society, committee or advocacy group for the following: FHF Scientific Advisory Board (unpaid), MVP-ROAR (unpaid), and NLA Genetics Working Group (unpaid). The other authors declare that they have no conflict of interest.

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Tricou, E.P., Morgan, K.M., Betts, M. et al. Genetic Testing for Familial Hypercholesterolemia in Clinical Practice. Curr Atheroscler Rep 25, 197–208 (2023). https://doi.org/10.1007/s11883-023-01094-2

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