Widespread Early Screening for Lynch Syndrome is Cost-Effective . . . and Saves Lives

If doctors ask  healthy people simple questions about cancers in their families, they can find people who are at increased risk for Lynch syndrome, an inherited condition that greatly increases risk for colorectal and uterine cancer.

Doctors can use a simple set of screening questions available online to pinpoint an individual’s risk before that person ever gets cancer.   The online tool takes less than two minutes to complete.

If family history shows an individual to be at higher risk, genetic testing not only saves lives but is cost-effective.

Once Lynch syndrome is diagnosed, active steps can be taken to prevent Lynch-associated cancers or diagnose them early when they can be cured.

A team at the University of Michigan used an Archimedes computer stimulation to model how questioning individuals without cancer about family cancer patterns would affect development of colorectal and uterine cancer.   They put information for a theoretical 100,000 people into their model, including how many people would actually get screened, what cancer outcomes are, and what costs would be.

They found that if screening questions were asked between the ages of 25 and 35 and people who had more than a 5 percent risk of Lynch syndrome based on those questions got genetic testing, their chance of getting colorectal were reduced by more than 12 percent.  Risk of uterine cancer went down by nearly 9 percent.

The cost per quality-adjusted life year (QALY) was $26,000 — well within the range of other preventive screening programs for colorectal, cervical, and breast cancer.  Usually a QALY below $50,000 is considered cost-effective.

Clues that someone might be at risk for Lynch syndrome include

  • A family history that includes colon or uterine cancer.
  • Family members whose cancers were diagnosed at a young age — below the age of 40 to 50.
  • Patterns of of several cancers in the family or in one person.

The cost to genetically test one person, identified by screening questions at risk for Lynch syndrome, is about $2,600.  Once the family mutation is discovered, testing additional family members is much less expensive — about $300.

During an American Association for Cancer Research press conference to discuss the study, Dr. Henry Lynch, professor of medicine and director of the Hereditary Cancer Center at Creighton University School of Medicine in Omaha, Nebraska, who discovered Lynch Syndrome, said,

I first presented this hereditary concept in 1964, and since then it has become more accepted. However, cost has always been a hurdle. With this new information about cost, we’ll be able to save a lot of lives and as a medical oncologist I feel very good about that.

Heather Hampel, genetic counselor at the Ohio State University pointed out that 1 in 35 patients with colorectal cancer has Lynch syndrome which translates to 1 in 370 Americans who carry a mutated gene for it. It is one of the most common inherited cancers.  Hampel has been instrumental in promoting another way of identifying people at risk by screening tumors from all people with colorectal cancer for MSI (microsatellite instability).  Patients with MSI then get full testing for gene mutations that cause Lynch syndrome.  While effective, she says that this strategy in not uniformly carried out.  It also requires having someone actually get cancer before family risk can be determined.

You can listen to Dr. Lynch, Ms. Hampel and other Lynch syndrome experts discuss the study and its impact during the press teleconference on the American Association for Cancer Research site.

Dr. Judy Garber, AACR President-elect, observed that Lynch syndrome is twice as frequent as BRCA breast cancer mutations, yet is much less often recognized.  She said the implications of the new study were huge.

This will affect a wide population by changing our thinking about risk for colon cancer. Young individuals will be able to have an assessment of their personal and family history using a computerized model that can help guide their colon cancer risk management for decades, and make it possible to prevent significant numbers of colon and associated cancers, especially in young people, for a very reasonable cost. It is a huge step forward in terms of bringing the benefits of cancer genetics to the broader population using tests that have, in the past, been considered too expensive.

Tuan A. Dinh, Ph.D., head of cancer modeling at Archimedes Inc., and lead researcher Stephen Gruber, M.D., Ph.D., M.P.H., director for cancer prevention and control at the University of Michigan Comprehensive Cancer Center, wrote,

These results suggest that primary screening of individuals for mismatch repair gene mutations, starting with risk assessment between the ages of 25 and 35, followed by genetic testing of those whose risk exceeds 5%, is a strategy that could improve health outcomes in a cost-effective manner relative to current practice.

SOURCE: Dinh et al, Cancer Prevention Research, published online November 18, 2010.

What This Means for Patients

Even if you do not have colon or rectal cancer, you can ask your doctor to estimate your risk for carrying one of the mutated genes that causes it.

A simple questionnaire is available online.

If your risk after completing the questionnaire is more than 5 percent, genetic testing can tell you and your family more whether you carry a genetic mutation that causes Lynch syndrome.  If you do have a mutation, close family members can also be tested.

While the cost of identifying the first family member is high — an average of $2,600 — additional members only need testing for one gene at an average cost of about $300.

Some people are concerned that being identified with Lynch syndrome or other inherited conditions will keep them from getting health insurance.  They also worry about job discrimination. GINA (the Genetic Information Nondiscrimination Act) protects them from being denied health insurance or charged more for it based on family history or genetic tests.  It also prohibits employers from refusing to hire someone with an inherited condition or treating them differently during their employment.

If you find out that you do have a mutation linked to Lynch syndrome, you can take steps to protect yourself against getting cancer or dying from it including:

  • Annual colonoscopies beginning at age 20 to find polyps and remove them.
  • Regular gynecological exams, including uterine biopsies and ovarian cancer screening, beginning at age 30-35.
  • Removal of uterus and ovaries once childbearing is over.
  • Depending on family history, regular upper endoscopies to find stomach cancers early.

Awareness Saves Lives.


  1. BEv tenenholz says

    the above article references an on-line risk assessment tool, but it is not found on the Dana Farber website due to some changes. How can I find the tool? Is it still available? thanks, Bev

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