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BRCA1/2 predictive testing: a study of uptake in two centres.

Lucy Brooks¹, Fiona Lennard, Andrew Shenton

¹Academic Unit of Medical Genetics and Regional Genetics Service, St Mary's Hospital, Manchester M13 0JH, UK.

European Journal of Human Genetics : EJHG

|May 13, 2004

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Uptake for BRCA1 and BRCA2 genetic testing remains low, especially for men. Many eligible individuals do not attend counseling, and uptake does not stabilize after one year.

Area of Science:

Genetics
Public Health
Cancer Research

Background:

Uptake of genetic testing for BRCA1 and BRCA2 mutations varies significantly.
Previous studies often involved research families or different methodologies, making comparisons difficult.

Purpose of the Study:

To investigate genetic testing uptake in non-research families in the UK.
To identify factors influencing uptake and timing of genetic testing for BRCA1 and BRCA2 mutations.

Main Methods:

A joint study of 75 non-research families from two UK centers.
Analysis of uptake for genetic counseling and testing at least 3 years after initial notification.
Comparison of uptake rates based on proactive vs. non-proactive approaches and clinic attendance.

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Main Results:

Only 45% (Manchester) and 34% (London) of eligible individuals attended counseling.
Final uptake rates were 53% (women) and 11-12% (men) with a non-proactive approach.
Uptake among those attending clinic was higher: 73% (women) and 62% (men).
25% of individuals were tested over 2 years after notification, indicating delayed uptake.

Conclusions:

Low uptake of genetic testing for BRCA1/BRCA2 mutations, particularly for men, requires attention.
Current non-proactive approaches may be insufficient.
Improving family communication and providing accessible information are crucial for increasing genetic testing uptake.