Haga S B, Barry W T, Mills R, Svetkey L, Suchindran S, Willard H F, Ginsburg G S
Duke Institute for Genome Sciences and Policy, Duke University, Durham, N.C., USA.
Public Health Genomics. 2014;17(2):95-104. doi: 10.1159/000358413. Epub 2014 Feb 27.
Genetic information, typically communicated in-person by genetic counselors, can be challenging to comprehend; delivery of this information online--as is becoming more common--has the potential of increasing these challenges.
To address the impact of the mode of delivery of genomic risk information, 300 individuals were recruited from the general public and randomized to receive genomic risk information for type 2 diabetes mellitus in-person from a board-certified genetic counselor or online through the testing company's website.
Participants were asked to indicate their genomic risk and overall lifetime risk as reported on their test report as well as to interpret their genomic risk (increased, decreased, or same as population). For each question, 59% of participants correctly indicated their risk. Participants who received their results in-person were more likely than those who reviewed their results on-line to correctly interpret their genomic risk (72 vs. 47%, p = 0.0002) and report their actual genomic risk (69 vs. 49%, p = 0.002).
The delivery of personal genomic risk through a trained health professional resulted in significantly higher comprehension. Therefore, if the online delivery of genomic test results is to become more widespread, further evaluation of this method of communication may be needed to ensure the effective presentation of results to promote comprehension.
遗传信息通常由遗传咨询师亲自传达，理解起来可能具有挑战性；而如今越来越普遍的在线传递这种信息，有可能加剧这些挑战。
为了研究基因组风险信息传递方式的影响，从普通公众中招募了300人，并随机分配他们通过获得认证的遗传咨询师亲自获取2型糖尿病的基因组风险信息，或通过检测公司网站在线获取。
要求参与者指出他们检测报告中报告的基因组风险和总体终生风险，并解释他们的基因组风险（增加、降低或与总体人群相同）。对于每个问题，59%的参与者正确指出了他们的风险。亲自收到检测结果的参与者比在线查看结果的参与者更有可能正确解释他们的基因组风险（72%对47%，p = 0.0002），并报告他们实际的基因组风险（69%对49%，p = 0.002）。
通过训练有素的健康专业人员传递个人基因组风险信息，能显著提高理解程度。因此，如果基因组检测结果的在线传递要更广泛地开展，可能需要对这种沟通方式进行进一步评估，以确保有效呈现结果，促进理解。
