September 9, 2019
Receiving a fetal alcohol spectrum disorder (FASD) diagnosis isn’t easy. First, it requires confirmation of prenatal exposure to alcohol. If—and only if—this is confirmed, a lengthy referral process ensues, followed by a diagnostic assessment which usually doesn’t take place until a child is school-aged, and often even later.
But research has shown that early interventions can profoundly improve outcomes for children with FASD. The challenge is that accessing these resources typically relies on having a diagnosis.
“We want to offer interventions when a child’s mind is still plastic enough where you can maybe change primary outcomes on top of secondary outcomes,” says Dr. Geoff Hicks, who leads the Regenerative Medicine Program at the University of Manitoba, stressing the importance of intervention before a child reaches the age of six.
Dr. Hicks is co-leading a project supported by Kids Brain Health Network (KBHN) to develop a genomic assessment tool that would identify infants and children at-risk of FASD, who could then access interventions before a formal diagnostic assessment takes place.
Canada’s current FASD diagnostic guidelines include an at-risk designation, intended for people with confirmed prenatal alcohol exposure and neurodevelopmental delays, but who don’t quite meet the criteria for an FASD diagnosis.
“If our tool is able to identify children at high-risk of developing FASD, then that’s a tool that can allow for a diagnosis of this “at-risk” category,” says Dr. Hicks.
The idea, explains Dr. Hicks, is that the result of the genomic tool would be indicated in the child’s medical chart to allow access to care and early intervention, as well as a recommendation for a complete diagnostic assessment at an appropriate time.
The development of the tool is based on epigenetics—changes that happen to a gene as the result of environmental influences, such as prenatal alcohol exposure. The test itself would simply be a cheek swab, which would look for epigenetic signatures that are unique to people with FASD.
The idea is that this would be a quick, cost-effective way to identify children at-risk of having the disability, including situations where confirmation of prenatal alcohol exposure isn’t disclosed.
This project builds on previous work supported by KBHN (then NeuroDevNet), which sampled over 200 individuals and identified several epigenetic signatures unique to those with FASD— the largest investigation of prenatal alcohol exposure effects on the human epigenome to date.
Hicks and his team are now working to validate those biomarkers.
The team has already collected 150 samples from various Indigenous communities across Manitoba, with the intention of expanding across the province to hopefully collect upwards of 2,000 samples. The current focus on Indigenous communities has been part of a commitment to the Truth and Reconciliation recommendations pertaining specifically to FASD.
“First Nations are taking a leadership role in partnering to make a difference for all of Canada and for others internationally,” says project co-lead Dr. Brenda Elias. “They’re rising to the occasion to guide how we, together, improve diagnosis so that it’s closer to home and has a positive impact by taking a more holistic approach in support of all children and families regardless of their ethnicity.”
Developing an early identification tool falls under a larger project being supported by KBHN, called Translating to the Community (T2C), a social biobank for FASD, and the first of its kind in Canada. Along with collecting biological samples to test for epigenetic signatures, the team is also collecting a much broader scope of information pertaining to the social determinants of health—from economic status, to general nutrition, to other diagnoses—to gain a more fulsome picture of FASD and the associated risk-factors.
Having a social biobank also allows individuals to be followed over time. Say someone’s environment changes (perhaps they are now living in a safe and stable home, which means they experience less stress on a daily basis). This information would be captured and researchers could see how this change in environment affects the way genes are expressed.
In the future, this could lead to identification of other disorders or health conditions associated with FASD, as a way for researchers to discriminate between changes resulting from alcohol exposure and those that are caused by other common risk factors or overlapping disorders. Knowing this can improve diagnosis and inform the best types of interventions to address them.
But perhaps what is most significant is the complete community involvement required when taking a social approach. Dr. Elias has been in the field working with community partners to collect samples, to determine how this kind of genomic tool would actually be implemented, and to inform interventions based on community need.
“(Our study instruments) are collecting information that now gives clinical teams a broader understanding of families so they will be able to expand referrals to address underlying determinants that drive the development of FASD and associated conditions,” says Dr. Elias. “If you document at the onset of this process then you can start interventions early, and you’re setting up the opportunity to address social inequalities.”
Dr. Elias stresses that when studying FASD, you can’t just look at the biological aspects—the social drivers are equally as important. Taking a community-based approach allows for long term change and brings diagnostics closer to home—a concept which really resonates with Canadian rural communities.
“It’s very action-orientated type research that we have engaged; it’s not research just for the sake of research to understand expression in biomarkers,” says Dr. Elias. “It’s looking at the underlying conditions and historic transmission as well as to what could lead to the development of such conditions.”
Moving forward, the team will continue to collect samples and work towards developing the tool, which they hope will be clinically evaluated within the next five years. The team is also aiming to have the tool tested in the community to determine its usefulness and impact in allowing access to early interventions and are hopeful that communities across the country will participate in the project.
“When you do research in this way with such engagement, understanding and trust, the stigma disappears,” says Dr. Hicks. “I hope this will be the next thing that really gives these kids and their families the break they need.”
Story by Vanessa Hrvatin