The American College of Medical Genetics and Genomics (ACMG) is in the process of developing a series of one-page documents to help guide doctors through discussing incidental findings from genome or exome tests or non-invasive prenatal testing (NIPT) with patients. These clinical decision support tools, called action (ACT) sheets, started development in 2006 to bring more uniformity to newborn screening programmes; now, ACMG wants to expand their reach to cover the most commonly used genetic tests.

David Flannery ACMG

Dr. David Flannery, Medical Director of ACMG

In the USA, there are currently only around 1,600 medical geneticists and 4,000 genetic counsellors. Despite their relative scarcity however, the demand for genomic testing is growing rapidly, with more and more patients receiving genetic screens every year. With the amount of testing exceeding the number of specialists, in most cases it is the responsibility of a family’s primary care doctor to report any genetic findings, regardless of the level of training they have.

“We have this genomics tsunami that’s occurring,” said David Flannery, M.D., Medical Director of ACMG, at Cleveland Clinic’s Medical Innovation Summit last week. “We can’t possibly educate every doctor in America to learn about genetics. This is not going to work.”

To help doctors who have been put in this position, ACMG is developing up to 149 ACT sheets for the most commonly performed genetic tests, which will provide the physician with information on how to confirm a diagnosis, what follow-up tests can be done, symptoms to watch out for, and a list of specialists or institutions that can be contacted for more information. In particular, the sheets are intended to help doctors deal with any incidental findings, results that indicate a patient may be at risk of a condition that was not the disease originally being tested for.

A number of ACT sheets are already available, some of which are concerned with newborn screening conditions, such as cystic fibrosis, muscular dystrophy, and fragile X syndrome. They are freely accessible online or via a purpose built app, although ACMG is considering the possibility of introducing a licensing or subscription system in the future to cover the cost of keeping the sheets updated. As part of this most recent development process, ACMG hopes to improve the sheets’ accessibility.

Now, ACMG wants to add further ACT sheets that cover the 59 genes that ACMG recommends labs should report if they occur as incidental findings, as well as conditions commonly identified by NIPT. They hope to publish the newest round of sheets before the end of the year.

“We’re expanding their use based on the same general principle that a non-genetics trained person could be the first person contacted about something that’s genetic, with which they have very little familiarity,” said Michael Watson, Ph.D., CEO of ACMG.

One of the major problems that still needs to be overcome is the lack of awareness around ACT sheets.  The American Academy of Pediatrics recommends that all paediatricians should use ACT sheets, especially for NIPT and neonatal testing results, but this advice does not always reach doctors. ACMG is hoping to increase the sheets’ visibility over the next few months by appearing at meetings and conferences, such as the Medical Innovation Summit that Dr. Flannery spoke at last week, but there is still significant work to be done to ensure that a large percentage of doctors are accessing the resources.