Study Designs and Statistical Methods for Assessing the Genetic Architecture of Disease with Mary Helen Black, PhD, MS

An introduction to study designs for investigating the role of genes in disease will be provided, followed by an overview of statistical methods used to test hypotheses for each design. Examples of several designs will be discussed, as well as accompanying methods. Publications assessing the role of genetic variation in disease will be examined, and a critical critique of methods and results for each publication will be reviewed.

Mary Helen Black, PhD, MS | Presenter

After completing a PhD in Statistical Genetics and Genetic Epidemiology and MS in Biostatistics at the University of Southern California, served as Senior Biostatistician and Research Scientist (Assistant Professor equivalent) in Kaiser Permanente Southern California’s Department of Research and Evaluation. Research focused primarily on the contribution of environmental and genetic risk factors to metabolic disease (gestational, type 1 and type 2 diabetes; gestational hypertension; cardiovascular disease), as well as medication adherence and pharmacogenetics. With nearly a decade of experience in designing genetic studies and analyzing genomic data, presently serve as Senior Statistical Geneticist in the Department of Bioinformatics and Computational Biology at Ambry Genetics. Current research interests include computational approaches for detecting rare variant associations, as well as gene-gene and gene-environment interactions contributing to cancer and other complex diseases. Research interests also include development and validation of polygenic risk scores that can be used to inform management of breast and prostate cancer.

Jill S. Dolinsky, MS, CGC | Moderator

Jill S. Dolinsky, RN, MS, CGC is the Senior Manager of Clinical Affairs Research at Ambry Genetics. In this role, she drives efforts to disseminate Ambry’s data to the medical community through public data sharing, collaboration and publication. Prior to joining Ambry, Ms. Dolinsky practiced clinically as a cancer genetic counselor in the University of Pennsylvania Health System, followed by a position at the University of Miami Miller School of Medicine in cardiovascular genetics, researching genetic etiologies of familial dilated cardiomyopathy along with clinical practice in cardiovascular genetics. Her current research interests include the clinical utility of multigene panel testing for hereditary cancer, the importance of broad data sharing in the interpretation of genomic data, and the assessment of rare variants in hereditary cancer and cardiovascular diseases. She has more than 25 peer-reviewed publications in molecular genetics and has been an invited lecturer at several scientific meetings.