Apr 2011(pdf): Cost-Effectiveness of Genetic Screening for Lynch Syndrome (Available at obgmanagement.com)

Supported by
Myriad Genetics Laboratories, Inc

KEY POINTS

• Lynch syndrome is a hereditary predisposition to
colorectal and endometrial cancers (and other specific
malignancies), resulting from a gene mutation
• Lynch syndrome is the most common heritable cause
of colorectal cancer and endometrial cancer
• Practice guidelines limit risk assessment of Lynch syndrome
to 1) genetic testing in people in whom malignancies
have already developed and 2) mitigation of
the impact of disease by colonoscopic and endometrial
surveillance, and surgical prophylaxis
• No primary screening strategies currently exist for Lynch
syndrome
• Over 50% of women with Lynch syndrome who develop
two primary cancers develop a gynecologic cancer
before colon cancer
• Guidelines issued by ACOG recommend that ObGyns
incorporate identification and management of women
who have hereditary breast and ovarian cancer syndrome
into practice; similar guidelines do not exist for
Lynch syndrome
• A new and powerful study has established evidence for
a protocol of primary screening of Lynch syndrome at a
particular threshold of individual risk
• Specifically, primary screening for unaffected patients,
with risk assessment conducted beginning between
25 and 35 years of age, followed by genetic testing of
people whose risk exceeds 5%, has the potential to improve
health outcomes in a cost-effective way