lunes, 10 de noviembre de 2014

Clinically relevant lessons from Family HealthLink: a cancer and coronary heart disease familial risk assessment tool : Genetics in Medicine : Nature Publishing Group

Clinically relevant lessons from Family HealthLink: a cancer and coronary heart disease familial risk assessment tool : Genetics in Medicine : Nature Publishing Group



Clinically relevant lessons from Family HealthLink: a cancer and coronary heart disease familial risk assessment tool

Genetics in Medicine
 
(2014)
 
doi:10.1038/gim.2014.136
Received
 
Accepted
 
Published online 

Abstract

Purpose:

A descriptive retrospective study was performed using two separate user cohorts to determine the effectiveness of Family HealthLink as a clinical triage tool.

Methods:

Cohort 1 consisted of 2,502 users who accessed the public website. Cohort 2 consisted of 194 new patients in a Comprehensive Breast Center setting. For patient users, we assessed documentation of family history and genetics referral. For all users seen in a genetics clinic, the Family HealthLinkassessment was compared with that performed by genetic counselors and genetic testing outcomes.

Results:

For general public users, the percentage meeting high-risk criteria were: for cancer only, 22.2%; for coronary heart disease only, 24.3%; and for both diseases, 10.4%. These risk stratification percentages were similar for the patient users. For the patient users, there often was documentation of family history of certain cancer types by oncology professionals, but age of onset and coronary heart disease family history were less complete. Of 142 with high-risk assignments seen in a genetics clinic, 130 (91.5%) of these assignments were corroborated. Forty-two underwent genetic testing and 17 (40.5%) had new molecular diagnoses established.

Conclusion:

A significant percentage of individuals are at high familial risk and may require more intensive screening and referral. Interactive family history triage tools can aid this process.
Genet Med advance online publication 30 October 2014
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Keywords:

 
familial; family history; genetic testing; risk assessment; triage

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Author information

Affiliations

  1. Division of Human Genetics, Department of Internal Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio, USA

    • Kevin Sweet,
      •  
    • Amy C. Sturm &
      •  
    • Doreen Agnese

  2. Department of Internal Medicine, Dorothy M. Davis Heart and Lung Research Institute, Ohio State University Wexner Medical Center, Columbus, Ohio, USA

    • Amy C. Sturm

  3. Department of Internal Medicine, Stefanie Spielman Comprehensive Breast Center, Ohio State University Wexner Medical Center, Columbus, Ohio, USA

    • Amy Rettig

  4. Department of Internal Medicine, Center for Biostatistics, Department of Biomedical Informatics, Columbus, Ohio, USA

    • Joseph McElroy

  5. Division of Surgical Oncology, Department of Internal Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio, USA

    • Doreen Agnese

Corresponding author

Correspondence to: 

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