Developing novel genetic counseling and testing approaches

Developing novel genetic counseling and testing approaches


As genetic testing becomes more common, the challenge is to identify strategies to make it accessible to everyone who needs it, and to make testing as efficient as possible. Traditional clinical genetics cancer care delivery models involve in-depth, in-person pre-test genetic education and counseling, followed by testing, and then in-person returning of results along with in-depth post-test genetic counseling. This model, however, may not be feasible for all situations, especially considering the rapid growth of testing approaches and a limited genetic provider workforce. Our projects aim to evaluate the psychological and behavioral implications of novel strategies to inform and support individuals as they consider and learn their genetic risk information. This work will help to maximize the potential benefits and minimize the potential harms of the increasing availability of genetic testing.

Some example projects are:

Project 1: Evaluating an Alternative Clinical Genetics Cancer Care Delivery Model: A Pilot Study of Patient Outcomes

Dr. Hamilton is currently co-leading an ongoing project that aims to examine outcomes of an alternative, more efficient model of delivering cancer genetic testing to patients diagnosed with ovarian, prostate, or pancreatic cancers. Psychological (e.g., satisfaction, knowledge) and behavioral (e.g., family communication) outcomes of this “mainstreaming” approach are being evaluated.

  • Hamilton JG, Symecko H, Spielman K, Breen K, Mueller R, Catchings A, Trottier, M, Salo-Mullen EE, Shah I, Arutyunova A, Batson M, Gebert R, Pundock S, Schofield E, Offit K, Stadler ZK, Cadoo K, Carlo MI, Narayan V, Reiss KA, Robson ME, Domchek SM. Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer. Genetics in Medicine. 2021; 23(11), 2105–2113. PMCID: PMC8556289
  • Shah I, Batson M, Pundock S, Zappile J, Symecko H, Breen K, Catchings A, Salo-Mullen EE, Spielman K, Domchek SM, Robson ME, Hamilton JG. (2019, March). Demographic and medical factors affecting cancer patients’ communication frequency and comfort regarding genetic testing. Presented at the annual Society of Behavioral Medicine meeting, Washington, DC.

Project 2: Responses to Genetic Risk Modifier Testing Among Women with BRCA1/2 Mutations

Dr. Hamilton is leading a new study to examine women’s interest and experiences with a novel SNP-based form of genetic testing. Among women with BRCA1/2 mutations, this SNP-based “genetic modifier” testing can provide a polygenic risk score and more precise information about their breast cancer risks. This study will evaluate women’s uptake of this testing, as well as their emotional and behavioral responses to test results.

Project 3: Evaluating Experiences of BRCA1/2 Mutation Carriers Identified through a Novel Population-Based Genetic Testing Model

Dr. Hamilton is co-leading a pilot study to understand people’s experiences with undergoing BRCA1/2 genetic testing through a population-screening model. As part of the ongoing BRCA Founder Outreach (BFOR) study, eligible individuals of Ashkenazi Jewish ethnicity can use a digital tool to learn about and consent to BRCA1/2 genetic testing, with the option of receiving their results from their primary care provider. This ancillary project aims to use qualitative methods to gain an in-depth understanding of the experiences of individuals who receive BRCA1/2 genetic testing through this population-screening model, and will also use survey data to compare their experiences to patients who received traditional clinical BRCA1/2 testing.

  • Relevant Links: BFOR Study –
  • Morgan KM, Hamilton JG, Symecko H, Kamara D, Jenkins C, Lester J, Spielman K, Pace LE, Gabriel C, Levin JD, Tejada PR, Braswell A, Marcell V, Wildman T, Devolder B, Baum RC, Block JN, Fesko Y, Boehler K, Howell V, Heitler J, Robson ME, Nathanson KL, Tung N, Karlan BY, Domchek SM, Garber JE, Offit K. Targeted BRCA1/2 population screening among Ashkenazi Jewish individuals using a web-enabled medical model: An observational cohort study. Genetics in Medicine. 2021. Epub 2021/12/03. PMID: 34906490.