NEW YORK (Reuters Health) – Returning carrier results of exome sequencing to a patient via a Web-based platform is noninferior to in-person genetic counseling, according to new research from the National Institutes of Health.
“There are important service delivery implications of these results as they suggest that carrier results can be returned to certain populations via a web-based platform that conveys relevant information with sufficient gains in knowledge and no evidence of adverse psychological well-being,” Dr. Barbara Biesecker and colleagues from the National Human Genome Research Institute write in their January 22 report in JAMA Internal Medicine.
The increasing use of genetic sequencing in clinical medicine has internists concerned, given the time required to interpret and deliver gene test results, Dr. Biesecker told Reuters Health in a telephone interview. Finding less resource-intensive ways to return these results will encourage doctors to use them in their practice, she and her colleagues say, and allow the limited workforce of genetic counselors and medical geneticists to focus on patients who do need in-person counseling.
Dr. Biesecker and her colleagues developed a Web-based system to provide the same information on carrier results from exome sequencing that a person would receive from a genetic counselor – specifically, what it means to be a carrier, autosomal dominant recessive inheritance, carrier status for children and grandchildren, personal results, and testing limitations.
They tested the system in patients enrolled in the ClinSeq study, who were past reproductive age but interested in finding out their carrier results and in passing them along to their children and grandchildren.
The researchers randomly assigned 462 people (mean age, 63; 54% male) to receive their results on the Web platform, from a genetic counselor, or by either method followed by a genetic counseling session (for a total of 4 groups). Web education sessions took an average of 21 minutes, in-person sessions 27 minutes.
In the current article, the researchers report only on the first two groups, because adding the counseling session did not make a significant difference in outcomes.
At one and six months after the intervention, knowledge, test-specific distress and decisional conflict about choosing to learn results were noninferior for the Web-based program. Similar percentages of patients in the two groups decided to disclose their results to a spouse, children or siblings.
Participants in the current study were well-educated, primarily white, and living in the Washington, DC area, Dr. Biesecker noted, suggesting the need for the findings to be replicated in younger, more diverse populations.
Genetic counselors “loved” the Web-based platform, she added, because it would free them up to take care of patients with more health-threatening and difficult genetic problems. “The data isn’t a threat to them; it’s an asset,” Dr. Biesecker said.
SOURCE: http://bit.ly/2n5cUP0
JAMA Intern Med 2018.
Tidak ada komentar:
Posting Komentar