Nearly one million people in the United States are affected by Lynch syndrome – a hereditary cancer condition with markedly elevated risk of gastrointestinal, endometrial, and other cancers.

Most of them, however, are unaware of it, or find out only after they have developed cancer. 

A screening tool – the PREMM5 model, developed at Dana-Farber can help rapidly identify people who should undergo germline genetic testing for Lynch syndrome.

PREMM5 was designed to be completed by providers but in a new project, Dana-Farber investigators adapted the screening tool as a patient-facing questionnaire and embedded the tool in the electronic health record system.

In the project led by Chinedu Ukaegbu, MBBS, MPH, new gastrointestinal cancer patients seen at Dana-Farber were able to complete the PREMM5 screener survey remotely or in clinic waiting rooms.

The screener collects information about the person’s sex, age, personal history of cancer, and history of certain cancers among relatives.

From these answers, a mathematical model calculates the probability that the individual has inherited any of one of the five Lynch syndrome genes.

It’s recommended that anyone whose risk is 2.5% or greater be referred for genetic counselling and testing to determine if they harbor a Lynch mutation.

Between June 2020 and December 2021, 35% of new gastrointestinal cancer patients completed the screening survey, and 367 of 1,504 (24%) had a positive PREMM5 score of 2.5% or greater.

As a result of their positive screen, 102 of 367 patients (28%) received a genetic counselling referral.

When tested, 13 patients had cancer-related pathogenic variants, including four with Lynch syndrome.

The researchers concluded that this patient-facing PREMM5 risk assessment method is feasible and identified nearly one in four general gastrointestinal oncology patients as warranting genetic evaluation. 

However, they noted additional refinements are needed to increase the rate of screener completion and referral for those with positive screens.

Source: Dana-Farber Cancer Institute