Elsevier, Preventive Medicine, Volume 152, November 2021
Genetic testing for suicide risk assessment: Theoretical premises, research challenges and ethical concerns
We explore ethical premises and practical implications of using genetic testing to predict suicide risk. Twin studies indicate heritable components of suicide risk, intertwined with the heritability of mental disorders, and possibly other traits. Current genetics research has abandoned searching for single gene Mendelian determinants, in favour of complex probabilistic epigenetic models. Genome-Wide Association Studies (GWAS) might identify thousands of single nucleotide polymorphisms (SNPs), each contributing very little to the variance associated with behavioral phenotypes.
Elsevier, Clinical Breast Cancer, Volume 21, June 2021
Health Care Disparities and Demand for Expanding Hereditary Breast Cancer Screening Guidelines in African Americans
Background: Genomic medicine has led to significant advancements in the prevention and treatment of cancer. The National Comprehensive Cancer Network (NCCN) guidelines recommend BRCA1/2 screening in high-risk individuals; however, the guidelines have not incorporated differences within ethnic cohorts beyond Ashkenazi Jewish ethnicity. We analyzed the prevalence of BRCA1/2 mutations in various ethnicities and identified high-risk personal characteristics and family history incorporating differences within ethnic cohorts beyond Ashkenazi Jewish ethnicity.
Elsevier, Neuron, Volume 101, 2 January 2019
The NeuroDev Study: Phenotypic and Genetic Characterization of Neurodevelopmental Disorders in Kenya and South Africa
The NeuroDev study will deeply phenotype cognition, behavior, dysmorphias, and neuromedical traits on an expected cohort of 5,600 Africans (1,800 child cases, 1,800 child controls, and 1,900 parents) and will collect whole blood for exome sequencing and biobanking.