A two-stage approach to genetic risk assessment in primary care

Breast Cancer Research and Treatment
Swati BiswasGiovanni Parmigiani

Abstract

Genetic risk prediction models such as BRCAPRO are used routinely in genetic counseling for identification of potential BRCA1 and BRCA2 mutation carriers. They require extensive information on the counselee and her family history, and thus are not practical for primary care. To address this gap, we develop and test a two-stage approach to genetic risk assessment by balancing the tradeoff between the amount of information used and accuracy achieved. The first stage is intended for primary care wherein limited information is collected and analyzed using a simplified version of BRCAPRO. If the assessed risk is sufficiently high, more extensive information is collected and the full BRCAPRO is used (stage two: intended for genetic counseling). We consider three first-stage tools: BRCAPROLYTE, BRCAPROLYTE-Plus, and BRCAPROLYTE-Simple. We evaluate the two-stage approach on independent clinical data on probands with family history of breast and ovarian cancers, and BRCA genetic test results. These include population-based data on 1344 probands from Newton-Wellesley Hospital and mostly high-risk family data on 2713 probands from Cancer Genetics Network and MD Anderson Cancer Center. We use discrimination and calibration measures, approp...Continue Reading

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May 22, 2013·Breast Cancer Research and Treatment·Swati BiswasGiovanni Parmigiani
May 20, 2015·Cancer Informatics·Emanuele MazzolaSwati Biswas

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Citations

Mar 8, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Katie StollStephanie A Cohen
Dec 5, 2018·The British Journal of General Practice : the Journal of the Royal College of General Practitioners·Flore LaforestAdrian Edwards
Aug 21, 2019·JAMA : the Journal of the American Medical Association·UNKNOWN US Preventive Services Task ForceJohn B Wong
Aug 29, 2020·Expert Review of Molecular Diagnostics·Sonya ReidTuya Pal
Sep 26, 2020·Nature Reviews. Clinical Oncology·Ophira GinsburgPaul Brennan

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