Avgan N, et al. BDNF Variants May Modulate Long-Term Visual Memory Performance in a Healthy Cohort. International Journal of Molecular Sciences. 2017; 18(3):655.

Dr. Avgan’s group used saliva samples from Oragene•DNA^TM collection kits, to assess genetic variants in learning and memory studies. Using DNA extracted from saliva to investigate brain-derived neurotrophic factor (BDNF), they identified 10 variants nominally associated with immediate visual memory and 3 variants significantly associated with long-term visual memory. This led to their conclusion that BDNF has a potential role in the genetics of memory.

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Fitzsimons, E et al. Collection of genetic data at scale for a nationally representative population: the UK Millennium Cohort Study. Longitudinal and Life Course Studies, Volume 13, Number 1, January 2022, pp. 169-187(19)

The Millennium Cohort Study (MCS) is a diverse and representative birth cohort study of UK children born at the turn of the millennium. Data has been collected at seven time periods, spanning from infant to 17 years old with DNA samples from saliva collected at age 14. Due to the scale of the study, cost and logistic were important to consider, along with participant compliance rates over time.

Saliva samples, which are painless for the donor and relatively easily collected, are quickly becoming the preferred choice for a cost-effective, non-invasive source of high-quality genomic DNA for use in genetic analysis. Using the Oragene•DNA saliva collection kits and the UK postal system, the MCS created a DNA bank of over 23,000 samples from mothers, fathers and children or genetic trios. This data will be accessible for further research, joining the many biobanks looking to provide more robust and diverse genetic information.

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Atkins, Rahshida, et al. "Eliciting Willingness and Beliefs towards Participation in Genetic Psychiatric Testing in Black/African American Mothers at Risk for Depression." Behavioral Sciences 10.12 (2020): 181.

It is well understood that the majority of historical genetic data is largely skewed towards European ancestry and there is a real need for diversity in genetic studies to promote health equity for underrepresented groups.

One study led by Dr. Atkins, investigated willingness to participate in genetic testing, specifically focused on Black/African American women at risk for depression. This study asked open-ended questions to solicit information on their beliefs, while providing information on saliva collection and DNA testing. As a result, 89.5% of the participants were willing to participate in salivary testing, though noted factors that could lower compliance rate including study knowledge, convenience of sample collection, or financial constraints. These conclusions indicate that saliva collection is an accepted form of genetic testing and study design must focus on reducing these barriers to ensure strong participation.

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