In a new National Institutes of Health (NIH) survey, most pregnant women wanted recommendations from their doctors when deciding what types of information to receive from prenatal whole genome sequencing. The study, by researchers at NIH's National Human Genome Research Institute (NHGRI) and the NIH Clinical Center, was published February 7, 2019, in the journal Obstetrics & Gynecology.
Whole genome sequencing enables researchers and clinicians to identify disease-causing mutations across the genome, the entire set of genetic instructions found in a cell. Non-invasive prenatal whole genome sequencing is not currently available but has been demonstrated in a lab. As this type of test becomes clinically available in the next few years, it will significantly increase the amount of genomic information parents can learn about their fetus. But physicians aren't yet prepared.
"We weren't surprised that many women wanted recommendations from their clinicians when faced with a tremendous range of genomic information," said Benjamin E. Berkman, J.D., M.P.H., deputy director, NHGRI Bioethics Core, and the survey's senior author. "Obstetricians and other clinicians will need additional training on how to present fetal genomic information in a way that meets an individual woman's needs."
Genetic counselors can provide parents guidance, but there are only 4,200 licensed genetic counselors and an estimated 3.95 million annual births in the United States. Thus, obstetricians and clinicians will need to play a bigger role in counseling pregnant women, according to the researchers.
Even without expert advice, most of the surveyed women wanted information on serious, treatable childhood-onset diseases. The information, they reasoned, would help them prepare emotionally, psychologically and financially for post-birth challenges.
Women with higher genomic literacy wanted to receive greater amounts of information. Genomic literacy is the ability to understand and use genomic information for health-related decisions. Some women didn't want certain kinds of information because it might increase their stress or because they wouldn't consider having an abortion regardless of what the testing indicated. Women who identified as Hispanic or Latina chose to receive less information than those in other racial and ethnic groups, though this finding is less clear-cut when factoring in income and education, researchers said.
"One size does not fit all," said Mr. Berkman. "Clinicians should be aware that not all women want the same type or amount of information."
In a 2016 survey of American Congress of Obstetricians and Gynecologists members, Mr. Berkman and his colleagues found that most OB/GYNs have a limited knowledge of genetics, rely heavily on genetic counselors and would like more guidance regarding the clinical adoption of prenatal whole genome sequencing. Obstetrics and gynecology is the medical field focused on pregnancy, childbirth and the postpartum period and the female reproductive system.
"Although this study is an important step towards understanding the perspectives of pregnant women on prenatal whole genome sequencing, more research is needed," Mr. Berkman said. He and his colleagues plan to conduct a survey of genetic counselors on their views about prenatal whole genome sequencing and about how direct to be when providing guidance to parents. They are also planning a survey to compare the views of pregnant women and their partners about what kind of prenatal genomic information they would want and how they would use it.
Posted: February 26, 2019