Cost-effectiveness of population-based BRCA1/2 testing and ovarian cancer prevention for Ashkenazi Jews: a call for dialogue.
OBJECTIVE
About half of unaffected BRCA1/2 carriers have a negative family history, confounding efforts toward presymptomatic carrier identification. Ovarian cancer is preventable for known carriers but is otherwise highly lethal. Cost-effectiveness and gains in life expectancy are important factors in evaluating the desirability of population-based genetic screening, currently the only viable strategy to identify carriers with unrevealing family histories.


METHODS
Cost-utility analysis for a population-based genetic screening program offered to American Ashkenazi Jewish women aged 35-55 years measuring cancer incidence, life expectancy, and cost.


RESULTS
Our model predicts that a genetic screening program would result in 2811 fewer cases of ovarian cancer, with a life expectancy gain of 1.83 quality-adjusted life years among carriers. At a cost of 460 USD for founder mutation testing, the cost of the program is 8300 USD(discounted) per year of quality-adjusted life gained.


CONCLUSIONS
In populations with a high prevalence of BRCA1/2 founder mutations, genetic screening may be cost-effective when compared with recommended public health interventions such as mammographic screening. We advocate the initiation of a dialogue among Jewish stakeholders, genetics professionals, and public health leaders to determine whether a population-based BRCA1/2 genetic screening program should be pursued.
Rubinstein
Wendy S
WS
NorthShore University HealthSystem Center for Medical Genetics, Northwestern University Feinberg School of Medicine, 1000 Central Street, Suite 620, Evanston, IL 60201, USA. wrubinstein@northshore.org
Jiang
Hongmei
H
Dellefave
Lisa
L
Rademaker
Alfred W
AW
D000328:Adult; D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein / Q000235:genetics*; D003362:Cost-Benefit Analysis; D005260:Female; D005817:Genetic Counseling / Q000191:economics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D015994:Incidence; D007585:Jews / Q000235:genetics*; D008017:Life Expectancy; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics / Q000517:prevention & control*
D019313:BRCA1 Protein; D024682:BRCA2 Protein