Why we must wake up to Lynch Syndrome in 2015

Comments 2 ; Posted 9 years ago by Andreas Obermair

This Sunday is International Lynch Syndrome Awareness Day, and I would like to take this opportunity to extend my sympathies to those women, men and families suffering from the disease. In particular, my greatest sympathies lie with the vast number of women and men who are yet to be diagnosed, leaving them vulnerable and unaware.

Lynch syndrome is an autosomal-dominant genetic condition known to cause a variety of malignancies in males and females.

Conventional thought up until the 1980’s focused primarily on the theory of bowel cancer being associated with Lynch. In teaching, emphasis was placed on the development of cancer at a young age and having a personal or family history of bowel cancer.  This was when the Amsterdam and Bethesda criteria were developed, though for various reasons it is becoming increasingly irrelevant these days.

These are the things research has brought to light since then:

• In female Lynch carriers, the lifetime risk of endometrial cancer is higher than the risk of bowel cancer.
• While bowel cancer can be screened for, screening for endometrial cancer is ineffective.
• Up to 50% of all patients diagnosed with Lynch Syndrome do not have a personal or family history of Lynch-related cancers.
• Modern Lab Research has identified specific mutations that cause cancer.

The five biggest reasons Lynch Syndrome must be recognised as a health issue today:

1. To solve the Lynch issue, the greatest obstacle that needs to ­­be overcome is the reliable identification of Lynch carriers.

Some patients diagnosed with Lynch-related bowel or endometrial cancer are not young, but are diagnosed at a normal age or their family does not have a history of cancer. Hence, no one will be alerted to the possibility of Lynch syndrome.

Some of the other 50% of patients who have a family history and are much younger than expected seem to fall through the cracks undiagnosed. In one of our recent publications we have confirmed significant information deficits in medical professionals caring for patients with Lynch-related cancers.

2. By missing an opportunity to diagnose a Lynch carrier, the problem is actually amplified. Lynch is not only a problem for the actual patient who is prone to develop multiple primary cancers, but also for all first-degree relatives, such as offspring and siblings. By not diagnosing a Lynch carrier, we also miss an opportunity to identify all other family members who have a 50% risk of carrying Lynch and hence developing cancers avoidably.

3. Screening and early detection is unproven for ovarian and endometrial cancer. A handful of studies suggest that endometrial biopsies are ineffective to diagnose endometrial cancer early. Ovarian cancer screening is not established for good reasons. Screening for bowel cancer is effective. 

4. In regards to prevention, I am aware of recent evidence suggesting a lower incidence of endometrial cancer mediated through intrauterine progestin. However, there is no evidence that this protective effect also applies to Lynch patients.

5. Finally, invasion into the lower uterine segment is typical for Lynch-related endometrial cancer and may constitute aggressive biological behaviour, sometimes necessitating adjuvant radiation or chemotherapy.

So what are the solutions?

It begins with testing.

 All women and men who are diagnosed with colorectal or endometrial cancer should be offered testing for Lynch. The initial testing is protein-based and does not constitute a genetic test. Immunohistochemical and MSI testing will suggest who should be offered genetic testing for an inherited, germline mutation.

Cost effectiveness analyses have proven a number of times that identification of those men and women who carry Lynch is the lynchpin to saving lives. This is very similar to quarantining patients infected with a deadly virus. Your biggest chance to limit the impact of Lynch is to stop the progressive dissemination of disease. In our case, if we diagnose Lynch and identify the carriers, we will open the doors to screening, early diagnosis and prevention of cancers that would otherwise have developed.

In some health departments testing is offered until the age of 50 years and we have recently published a recommendation for testing all women diagnosed with endometrial cancer if they are 60 years or younger.

Awareness is essential.

GPs, gynaecologists and bowel surgeons need to be further exposed to the concept of Lynch. Middle-aged doctors like me did not grow up learning about Lynch at Medical School. On a bigger scale, discussions about Lynch only started in the 1990's. These days, our trainees learn about Lynch and refer patients to colleagues with a special interest in Lynch for an opinion. Commemoration days, such as Lynch Syndrome Awareness Day on 22 March 2015 are ideal occasions to disseminate facts about Lynch and how the situation can be improved.

We must break down barriers.

Among the barriers to seeking professional help and to genetic testing, is the fear of discrimination by becoming ineligible for health insurance. In Australia, virtually everybody can get health insurance.

By contrast, exclusion criteria (e.g. Lynch, Diabetes or any other severe co-morbidities) apply when patients wish to take life insurance, income protection, disability insurance and long-term-care insurance.

In reality, the majority of Lynch patents receive incomplete genetic counselling and treatment. Unfortunately, too many of our colleagues still watch out for a positive family history instead of arranging for sound diagnostic tests that could point to the possibility of Lynch Syndrome.

While the information about Lynch Syndrome gradually diffuses into mainstay clinicians’ consciousness, there is still much that could be done to expedite the uptake of expert consultation and up-to-date diagnostic testing.

With Lynch, I can see that consumers will soon be in a good position to drive the agenda to their benefits. Genetic tests will be increasingly marketed at consumers, thus bypassing medical specialists to order genetic tests online.  Direct-to-consumer advertising is already in place for advanced surgical procedures and an increasing number of patients are well informed and unwilling to accept limitations in medical service delivery.

I congratulate Lynch Syndrome consumer organisations in Australia and world-wide for their pioneering work to bring this important health issue to our attention.

What is your stance on the issue? Have you identified any major hurdles to overcoming the issue that I have not identified? What is your belief on where we must go from here?