• About Us
    • Contact Us
    • Login
    • ObGFirst
  • COVID-19
  • Alerts
  • OB
  • 2T US Atlas
  • The Genome
  • GYN
    • GYN
    • Sexual Health
  • Primary Care
  • Your Practice
  • GrandRounds
  • My Bookshelf
  • Now@ObG
  • Media
About Us Contact Us Login ObGFirst
  • COVID-19
  • Alerts
  • OB
  • 2T US Atlas
  • The Genome
  • GYN
    • GYN
    • Sexual Health
  • Primary Care
  • Your Practice
  • GrandRounds
  • My Bookshelf
  • Now@ObG
  • Media
Grand Rounds

Does Genetic Testing for Familial Hypercholesterolemia Improve Disease Detection vs Clinical Features Alone?

image_pdfFavoriteLoadingFavorite

BACKGROUND AND PURPOSE:

  • Heterozygous familial hypercholesterolemia (FH) is a common, heritable disorder that causes premature cardiovascular disease
  • Despite the genetic basis of FH, there is no national screening program in the US to identify individuals with pathogenic or likely pathogenic variants
  • Bellows et al. (Journal of the American Heart Association) sought to determine if using genetic testing would enhance screening methods based on clinical factors only

METHODS:

  • Population
    • UK Biobank participants
  • Exposures
    • Clinical characteristics
    • FH variant status
  • Study design
    • A regression model to predict the probability of having any FH variants was developed using participant exposure statuses
    • The regression model and modified Dutch Lipid Clinic Network criteria were applied to adult participants in the National Health and Nutrition Examination Survey (NHANES) to estimate the yield of FH screening programs using
      • Dutch Lipid Clinic Network clinical criteria alone (no genetic variant status)
      • Genetic testing alone
      • Combining clinical criteria with genetic testing
  • Primary outcomes
    • Accuracy of regression model
    • Yield of potential FH screening programs

RESULTS:

  • 49,738 UK Biobank participants used for regression model generation | 39,790 participants in NHANES used to estimate yield of screening
  • The regression model accurately predicted FH variant status in UK Biobank participants
    • Observed prevalence: 0.27%
    • Predicted prevalence: 0.26%
    • Area under the receiver-operator characteristic (ROC) curve: 0.88
  • In NHANES, estimated yield per 1000 individuals screened
    • With Dutch Lipid Clinic Network clinical criteria alone
      • 3.7 cases (95% CI, 3.0 to 4.6)
    • With genetic testing alone
      • 3.8 cases (95% CI, 2.7 to 5.1)
    • With combination of clinical criteria with genetic testing
      • 6.6 cases (95% CI, 5.3 to 8.0)
  • In young adults 20 to 39 years
    • Clinical criteria alone: Estimated to yield 1.3 FH cases per 1000 people screened (95% CI, 0.6 to 2.5)
    • Addition of genetic testing: Estimated to increase to 4.2 FH cases (95% CI, 2.6 to 6.4)

CONCLUSION:

  • Combining genetic screening with clinical criteria may improve detection of FH, increasing opportunities for early treatment
  • The authors state

Targeted screening strategies, such as offering genetic testing to adults with an LDL‐C ≥160 mg/dL or adults aged 20 to 39 years, may increase screening yield, and could allow for earlier identification and treatment of FH

Learn More – Primary Sources:

Estimated Yield of Screening for Heterozygous Familial Hypercholesterolemia With and Without Genetic Testing in US Adults

Want to stay on top of key guidelines and research papers?

ObGFirst® – Try It Free! »

image_pdfFavoriteLoadingFavorite
< Previous
All Grand Rounds Posts
Next >

Related ObG Topics:

Familial Hypercholesterolemia: A Reportable ACMG Secondary Finding
Is Multigene Testing in All Women with Breast Cancer Cost-Effective? And is it a Good Idea?
Single Gene vs Multigene Panel Testing for Cancer Predisposition: Are Guidelines Too Restrictive?

Sections

  • COVID-19
  • Alerts
  • OB
  • GYN
    • GYN
    • Sexual Health
  • 2T US Atlas
  • The Genome
  • Primary Care
  • Your Practice
  • Grand Rounds
  • My Bookshelf
  • Now@ObG
  • Media

Are you an
ObG Insider?

Get specially curated clinical summaries delivered to your inbox every week for free

  • Site Map/
  • © ObG Project/
  • Terms and Conditions/
  • Privacy/
  • Contact Us/
© ObG Project
SSL Certificate


  • Already an ObGFirst Member?
    Welcome back

    Log In

    Want to sign up?
    Get guideline notifications
    CME Included

    Sign Up

Download Your ObG App
HERE!

Sign In

Lost your password?

Sign Up for ObGFirst and Stay Ahead

  • - Professional guideline notifications
  • - Daily summary of a clinically relevant
    research paper
  • - Includes 1 hour of CME every month

ObGFirst Free Trial

Already a Member of ObGFirst®?

Please log in to ObGFirst to access the 2T US Atlas

Password Trouble?

Not an ObGFirst® Member Yet?

  • - Access 2T US Atlas
  • - Guideline notifications
  • - Daily research paper summaries
  • - And lots more!
ObGFirst Free Trial

Media - Internet

Computer System Requirements

OBG Project CME requires a modern web browser (Internet Explorer 10+, Mozilla Firefox, Apple Safari, Google Chrome, Microsoft Edge). Certain educational activities may require additional software to view multimedia, presentation, or printable versions of their content. These activities will be marked as such and will provide links to the required software. That software may be: Adobe Flash, Apple QuickTime, Adobe Acrobat, Microsoft PowerPoint, Windows Media Player, or Real Networks Real One Player.

Disclosure of Unlabeled Use

This educational activity may contain discussion of published and/or investigational uses of agents that are not indicated by the FDA. The planners of this activity do not recommend the use of any agent outside of the labeled indications.

The opinions expressed in the educational activity are those of the faculty and do not necessarily represent the views of the planners. Please refer to the official prescribing information for each product for discussion of approved indications, contraindications, and warnings.

Disclaimer

Participants have an implied responsibility to use the newly acquired information to enhance patient outcomes and their own professional development. The information
presented in this activity is not meant to serve as a guideline for patient management. Any procedures, medications, or other courses of diagnosis or treatment discussed or suggested in this activity should not be used by clinicians without evaluation of their patient’s conditions and possible contraindications and/or dangers in use, review of any applicable manufacturer’s product information, and comparison with recommendations of other authorities.

Jointly provided by

NOT ENOUGH CME HOURS

It appears you don't have enough CME Hours to take this Post-Test. Feel free to buy additional CME hours or upgrade your current CME subscription plan

Subscribe

JOIN OBGFIRST AND GET CME/CE CREDITS

One of the benefits of an ObGFirst subscription is the ability to earn CME/CE credits from the ObG entries you read. Tap the button to learn more about ObGFirst

Learn More
Leaving ObG Website

You are now leaving the ObG website and on your way to PRIORITY at UCSF, an independent website. Therefore, we are not responsible for the content or availability of this site