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ACMG Developing Decision Support Tools for Non-Geneticist Docs for Secondary Findings, NIPT


This article has been updated to note that 16,500 babies in the US are identified with a rare condition through newborn screening.

NEW YORK (GenomeWeb) – The American College of Medical Genetics and Genomics (ACMG) is developing new clinical decision support tools to help doctors discuss with patients incidental findings from exome and genome sequencing, as well as results of non-invasive prenatal testing, and guide them through follow-up evaluations.

"We have this genomics tsunami that's occurring," David Flannery, ACMG's medical director, said last week at Cleveland Clinic's Medical Innovation Summit, but noted that there are only 1,600 MD geneticists and 4,000 genetic counselors.

"We can't possibly educate every doctor in America to learn about genetics," he reflected during a panel discussion that was webcast. "This is not going to work."

To help doctors care for patients in the face of increasing genomic evaluations, the ACMG has been developing one-page decision support tools, called action (ACT) sheets. "We're developing up to 149 ACT sheets now for all the commonly done genetic tests, especially for secondary findings from genetic panel testing," Flannery said.

The group started developing these tools in 2006 as part of efforts to bring uniformity to the conditions evaluated within newborn screening programs across US states. "The highest volume of genetic testing that happens in America is newborn screening, because every newborn is tested for 28 or so inborn errors of metabolism," Flannery said. "Many of them are rare, and the pediatrician that gets an abnormal result for something he's never heard of is not going to do a very good job." 

Each year, around 16,500 babies are identified with one of these rare conditions assessed through newborn screening, according to the ACMG. "We decided we had to be able to do something to support those primary care providers who in many states are on the front lines of newborn screening," said ACMG CEO Michael Watson in an interview.

In many states newborn screening is performed in public health labs and communicated to primary care doctors, who are then expected to contact the family to explain that something was detected through screening and the baby needs to come back for further evaluation. The ACT sheets provide guidance to the doctors on a single piece of paper, including information about what steps to take next to confirm a diagnosis, the follow-up tests that are needed, which symptoms to look out for (or tell parents to look out for) if it's a condition that can show up soon after birth, as well as links to look up labs that perform testing, expert physicians, and support groups.

Over the years, the ACMG has worked with newborn screening programs to incorporate ACT sheets. The American Academy of Pediatrics recommends all pediatricians use these sheets related to newborn screening, and the ACMG is currently evaluating how many state programs have incorporated them. Watson estimated that more than half of the states use ACT sheets or a variation of them, while other states send babies with positive screening results to specialists who don't need to rely on these tools as much as primary care docs might.

The sheets are designed to be electronically read. Depending on an organization's capacity for electronic medical records, sometimes the sheets are incorporated into the EMR workflow as it is at Intermountain Healthcare serving Utah, as well as at the Regenstrief Institute affiliated with Indiana University School of Medicine.

At other organizations, the ACT sheets are included with the newborn screening results as a link or print out. "Our long-term goal is to integrate this into an electronic environment," Watson said. "You tend to lose practicing physicians if they have to go more than one click to search for information."

The ACMG has had discussions with EMR vendors to see if ACT sheets can be integrated more uniformly at institutions. For the time being, ACT sheets on newborn screening can be downloaded freely or accessed through an app, though Watson noted that the app needs to be revamped.

The providers that have used the newborn screening ACT sheets have found them helpful. Robert Ostrander, a family medicine doctor in a rural community in upstate New York and a member of ACMG's ACT sheet workgroup, has used the sheets on a number of occasions in his own practice.

In one instance when a newborn had an abnormal thyroid screen, Ostrander pulled up the relevant ACT sheet to confirm that this wasn't a condition that needed immediate attention within the first day or two. The sheet also included information on confirmatory testing for hypothyroidism that needed to be done and which turned out to show that the child didn't have the disease. The ACT sheet "allowed us not to push the panic button and talk coherently with the family," he recalled. 

Another time, the ACT sheets came in handy in the case of a newborn whose family members carried the genetic markers for severe combined immunodeficiency (SCID), which impairs B and T lymphocytes leading to life-threatening infections. Between 40 and 100 babies are diagnosed with SCID each year. The outlook is better for children who receive a bone marrow transplant in the first three months of life.

Ostrander expedited newborn screening for the child after birth. "Even before the blood screen came back, the ACT sheet reminded us of all the precautions that needed to be taken in terms of protecting the child from infection and discuss with the parents what early preventive measures might be," he said. "And perhaps most importantly, [the ACT sheet] made us aware to talk to the parents early on about our goal of getting a bone marrow transplant as soon as possible."

In addition to ACT sheets for newborn screening conditions, the ACMG has developed similar one-pagers for carrier screening for cystic fibrosis, muscular dystrophy, and fragile X syndrome; for assessing family history of colon cancer; and for adult phenylketonuria.

Based on the initial success with these resources, the ACMG is now working on expanding ACT sheets into other genetic testing indications. "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," Watson said.

Specifically, the ACMG is developing ACT sheets for the 59 genes that the group recommends labs report to providers when they order exome or genome sequencing for patients. Pathogenic variants in these genes are known to cause disease, and ACMG has determined that giving patients the option to learn they have these variants would enable them to take actions that can benefit them or their families. 

The ACT sheets related to the ACMG-59 will include information to guide providers through initial communications with patients about their risks and point them to a network of experts, Watson said.

Ostrander has managed at least one patient who had a family history of breast cancer without a known genetic risk mutation and got testing on a large gene panel. The test revealed a risk mutation in a gene that Ostrander didn't know much about, and he ended up doing a lot of research to sort out the risks that mutation conferred on breast and other cancers, what it meant for other family members, and if any risk reducing interventions are advised.

"For better or worse, more and more people are availing themselves of commercial exome and genome testing, and they come back with a result that they want more information about," Ostrander said. "The nice thing about the ACT sheets is they give the key information in a bite-sized piece the physician can digest in several minutes without having to spend hours researching in text books and online journal articles."

The ACMG is also developing ACT sheets for conditions gauged as part of non-invasive prenatal testing (NIPT), which is the most rapidly growing segment in genetic testing. However, doctors need more guidance, Watson said, because "we found there is a real deficiency out there in the community about what the clinical sensitivity of non-invasive prenatal screening was."

The ACMG is hoping to release these new ACT sheets by year end. However, Watson acknowledged that despite ACMG's effort to spread the word about newborn screening ACT sheets, not enough doctors know about them. This is something the ACMG hopes to remedy through upcoming publications and presentations at conferences.

Before releasing the new ACT sheets, Watson plans to publish a manuscript to discuss the development of ACT sheets and their purpose and impact so far in order to raise awareness among providers. Although for the time being the ACT sheets are available for free, ACMG is considering implementing a licensing or subscription system in the future to ensure that these tools are kept up to date.

So far, the intended audience of the ACT sheets has been primary care doctors, but in some cases it has become clear that physicians may not be following all the recommendations in the document. For example, when newborn screening identifies a baby at risk for hearing loss, they go see an audiologist. But confirming hearing loss isn't necessarily a diagnosis, it could be the symptom of an underlying genetic condition. And yet, some parents don't always end up seeing a geneticist to confirm the etiology of their babies' hearing loss.

When experts at the ACMG learned of this, they converted the hearing loss ACT sheet into a patient brochure so families had a better idea of what had to occur to diagnose their child. "We're thinking of doing more of that in areas where the patients can also be empowered to have an expectation of what ought to happen," Watson said.