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From Molecular Insights to Patient Stratification for Neurological and Psychiatric Disorders Proceedings of a Workshop (2022) / Chapter Skim
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3 Increasing Ancestral Diversity to Enable Precision Medicine for Neurological and Psychiatric Disorders
Pages 13-26

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From page 13...
... . • Several National Institutes of Health and private initiatives aim to increase the diversity of samples in genome-wide association studies, but a gap remains for the fastest growing minority population in the United States -- Asians and Pacific Islanders (Wang)
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From page 14...
... Yet, currently existing large genomic datasets reflect a distinct European bias, said Sarah Tishkoff, the David and Lyn Silfen University Professor in Genetics and Biology at the University of Pennsylvania. In an examination of genome-wide association studies (GWAS)
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From page 15...
... A Martin added that while polygenic risk scores have tremendous promise, "Right now I think they are more likely to exacerbate health disparities due to these Eurocentric study biases." She advocated for more diverse GWAS, new methods, increased research capacity, and better communication on culturally sensitive topics related to genetic research.
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From page 16...
... For example, orange/yellow reflects African ancestry. NOTE: ACB = Barbadian; ASW = African Americans in southwest USA; BEB = Bengali; CDX = Dai Chinese; CEU = Utah residents with northern and western European ancestry; CHB = Han Chinese; CHS = southern Han Chinese; CLM = Colombian; ESN = Esan; FIN = Finnish; GBR = British; GIH = Gujarati; GWD = Gambian; IBS = Spanish; ITU = Telugu; JPT = Japanese; KHV = Kinh Vietnamese; LWK = Luhya; MSL = Mende; MXL = Mexican American; PEL = Peruvian; PJL = Punjabi; PUR = Puerto Rican; STU = Tamil; TSI = Tuscan; YRI = Yoruba.
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From page 17...
... Gene markers are also valuable in assessing individual risk of disease and enabling risk stratification through the use of polygenic risk scores, added A Martin.
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From page 18...
... Martin. Healthy individuals tend to have lower risk because they have fewer genetic risk variants, while those with disease may have higher risk because they have more genetic risk variants.
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From page 19...
... Polygenic prediction in schizophrenia using data from a mostly ­European ancestry cohort has shown a similar disparity in accuracy, per forming about six times more accurately in European ancestry populations than African Americans, and about 1.5 times more accurately in European ancestry populations than in Asian populations, said A Martin.3 If genetic studies could be made more equitable, polygenic risk scores could have promising clinical use.
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From page 20...
... Diverse datasets provide excellent opportunities to examine gene–environment interactions, for example, by studying populations of Asian ancestry in North America compared with Asians in Asia that encounter different exposures related to diverse diets, lifestyles, and immigration history, said Li-San Wang, professor of pathology and laboratory medicine and founding co-director of the Penn Neurodegeneration Genomics Center at the University of Pennsylvania.
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From page 21...
... As shown in the table on the top, AD genetic research is biased heavily toward Caucasian and non-Hispanic white (NHW) populations in terms of the numbers of research publications, numbers of genetic loci identified, and numbers of variants identified.
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From page 22...
... 7 has partnered with The Michael ­ J Fox Foundation for Parkinson's Research to create a rich and diverse dataset and biosamples to drive discoveries in diverse populations, enable the development of human cellular models, and create a framework for examining gene and environment relationships, according to Riley.
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From page 23...
... "Maybe we should just measure those things instead of adding race into the model," she said. BARRIERS AND SOLUTIONS TO INCLUDING DIVERSE POPULATIONS IN HUMAN GENOMICS RESEARCH Workshop speakers identified three major barriers to including diverse populations in human genomics research -- time, passion, and historically earned mistrust.
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From page 24...
... . To achieve diversity in their genetic studies, GP2 is gathering biosamples from Africa, Asia, Australia and New Zealand, Europe, the Americas, and Canada.
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From page 25...
... This includes informing the community about what has been learned and what the benefits and limitations are of the research. Tishkoff added that gaining trust will require a diverse workforce, including people who look like and represent the desired research participants.
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Key Terms

  • risk scores
  • european ancestry
  • genetic variation
  • accessed december
  • genetic risk

  • genetic research
  • diverse populations
  • ancestry populations
  • genetic studies
  • risk variants

  • genomic datasets
  • health disparities
  • fewer genetic
  • including diverse
  • asian ancestry

  • human genomics
  • asian americans
  • effect sizes
  • genetic factors
  • lower risk

  • diverse datasets
  • african ancestry
  • european bias
  • african american
  • tishkoff added

  • martin added
  • using data
  • exacerbate health
  • fastest growing
  • pacific islanders


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