Assessment and Communication of Lifetime Disease Risk by Genetic Counselors: Maintaining the Link between Research and Practice

Vol. 61, No. 2, 2006

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Invited Editorial

Assessment and Communication of Lifetime Disease Risk by Genetic Counselors: Maintaining the Link between Research and Practice
Gary A. Chase

Penn State University, College of Medicine, Hershey, Pa., USA

Address of Corresponding Author

Hum Hered 2006;61:65-66 (DOI: 10.1159/000092647)

Abstract

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Genetic counselors perform one of the most valuable and sought-after services in modern biomedicine. The profession of genetic counseling has gained substantial scientific independence and made remarkable progress in only a few decades. Many genetic counselors also participate in cutting-edge clinical research and provide valuable guidance for their peers and other health professionals, particularly regarding the communication of disease risk.

In the era when many inherited disorders were very specifically defined, penetrance curves could be estimated and mathematical formulas used to derive precise risks depending on the age and other covariates of the person seeking advice [1]. For example, it was discovered that those who had inherited the Huntington's disease gene from an affected father had earlier onset ages, as a rule, than those inheriting from an affected mother [2]. Therefore the risk for someone of a specific age who had not been tested and was phenotypically as yet unaffected, would be calculated differently for males and females. Later on the age of onset for persons with positive HD gene tests could also be predicted by knowledge of the CAG repeat status [3].

Author Contacts

Prof. Gary A. Chase, PhD
Penn State College of Medicine
600 Centerview Drive, Box 855
Hershey PA 17033 (USA)
Tel. +1 717 531 1259, Fax +1 717 531 5779, E-Mail gac15@psu.edu

Article Information

Received: February 7, 2006
Accepted: February 7, 2006
Published online: April 19, 2006
Number of Print Pages : 2
Number of Figures : 0, Number of Tables : 0, Number of References : 10

Medline Abstract (ID 16636572)

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