Through surveys and interviews, scientists the experiences of women having prenatal chromosomal microarray testing and the prenatal genetic counselors who serve them. The offer of genome-wide testing is viewed as an offer “good good to pass up”, but positive results may be viewed as “toxic knowledge”, complicating decision-making and impacting the parenting of children born with known copy number variants. Study findings will be presented and discussed in light of current and future approaches to prenatal diagnosis.
For over 20 years, Barbara Bernhardt has conducted research relating to clinical genetics, genetics counseling, and the ethical, legal and social implications of genetic technologies. She has researched the economics of providing genetics services, including methods of billing, level of reimbursement, factors influencing coverage of genetics services, and the economic impact of genetics services on an academic medical center. She has also evaluated the delivery of genetics services and factors that influence the utilization of genetics services and tests. Ms. Bernhardt has been an investigator on many NIH-funded projects that have explored both qualitatively and quantitatively:
Diffusion of new genetic technologies
Consumer and provider knowledge of and attitudes towards genetics and genetic testing
Methods of delivering and evaluating genetic services
Ms. Bernhardt’s current research projects include analysis of the clinical utility of genetic testing, assessment of public misperceptions of genomic testing for susceptibility to common complex diseases and an exploration of the distress experienced by genetic service providers in the course of providing patient care.