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Implications for cancer genetics practice of pro-actively assessing family history in a General Practice cohort in North West London

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Implications for cancer genetics practice of pro-actively assessing family history in a General Practice cohort in North West London

Content Provider	Springer Nature Link
Author	Kohut, Kelly D’Mello, Lucia Bancroft, Elizabeth K. Thomas, Sarah Young, Mary Anne Myhill, Kathryn Shanley, Susan Briggs, Brian H. J. Newman, Michelle Saraf, Ifthikhar M. Cox, Penny Scambler, Sarah Wagman, Lyndon Wyndham, Michael T. Eeles, Rosalind A. Ferris, Michelle
Copyright Year	2011
Abstract	At present cancer genetics referrals are reactive to individuals asking for a referral and providing a family history thereafter. A previous pilot study in a single General Practice (GP) catchment area in North London showed a 1.5-fold increase in breast cancer risk in the Ashkenazi Jewish population compared with the non-Ashkenazi mixed population. The breast cancer incidence was equal in the Ashkenazim in both pre- and postmenopausal groups. We wanted to investigate the effect of proactively seeking family history data from the entire female population of the practice to determine the effect on cancer genetics referral. Objectives To determine the need for cancer genetics intervention for women in a single GP catchment area. (1) to determine the incidence and strength of family history of cancer in women aged over 18 in the practice, (2) to offer cancer genetics advice and determine the uptake of counselling in those with a positive family history, (3) to identify potential BRCA1/BRCA2 gene mutation carriers who can be offered clinical follow up with appropriate translational research studies. Design Population-based cohort study of one General Practice female population. Participants Three hundred and eighty-three women over the age of 18 from one General Practice who responded to a questionnaire about family history of cancer. The whole female adult GP population was the target and the total number sampled was 3,820. Results 10% of patients completed the questionnaire (n = 383). A family history of cancer was present in 338 cases, 95 went on to have genetic counselling or had previously had counselling and 47 were genetically tested. We identified three carriers of an Ashkenazi Jewish founder mutation in BRCA1. Conclusions Response rate to a family history questionnaire such as that used in genetics centres was low (10%) and other approaches will be needed to proactively assess family history. Although the Ashkenazim are present in 39% of the GP catchment area, 62% of those who returned a family history questionnaire were from this ethnic group and of those returned, 44% warranted referral to a cancer genetics unit. In the non Ashkenazim, the questionnaire return rate was 38% and 18% of those warranted referral to cancer genetics.
Starting Page	107
Ending Page	113
Page Count	7
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	11
Issue Number	1
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2011-10-21
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Ashkenazi Jewish Gene testing General practice Cancer risk Ashkenazi BRCA1 BRCA2 Cancer Research Biomedicine general Human Genetics Epidemiology
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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Implications for cancer genetics practice of pro-actively assessing family history in a General Practice cohort in North West London

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Implications for cancer genetics practice of pro-actively assessing family history in a General Practice cohort in North West London