Direct-to-Patient Reporting Genetic Results Through ePHRs
Web-based disclosure of genetic screening results through electronic patient health records (ePHRs) is both feasible and acceptable to cancer patients, according to a study published in Genetics in Medicine. ePHRs are being studied for their effectiveness in meeting new requirements for direct return of results to patients, as well as expanded meaningful use criteria, but […]
Web-based disclosure of genetic screening results through electronic patient health records (ePHRs) is both feasible and acceptable to cancer patients, according to a study published in Genetics in Medicine. ePHRs are being studied for their effectiveness in meeting new requirements for direct return of results to patients, as well as expanded meaningful use criteria, but haven’t been widely used for returning genetic test results. Per institutional standards, immunohistochemistry (IHC) testing was performed for mismatch repair (MMR, MLH1, MSH2, MSH6, and PMS2 expression) in colorectal and endometrial cancer specimens for identification of Lynch Syndrome carrier status. For study participants, MMR results were returned via institutional ePHRs. An automated e-mail message alerted participants that the result was available with a reminder e-mail for those not viewing results within three days. Participants completed a distress measure by telephone within 36 hours of viewing the result. The researchers found that more than half of the approached patients (65 of 121) were ineligible for study participation due to lack of Internet access or use of the Internet or e-mail less than once per week. Nonwhite patients and those 65 years of age and older were significantly more likely to be ineligible. Of those eligible, 74 percent consented to participate, exceeding the first feasibility benchmark of at least 50 percent participation. Forty-nine participants had MMR results successfully posted to their ePHR, with 89 percent viewing the results. Participant-rated acceptability of the study was high, with 97 percent having a mean score of 4 or higher on a 7-point scale. There were no differences seen between anxiety levels, regardless of result. The majority viewed their result within 24 hours after posting, although some took up to 18 days. The “More Information” hot link was used by over three-quarters of participants, including four of the five participants with abnormal results. An equal percentage of participants, regardless of result, reported discussing their result with their doctor. The authors, led by Michael J. Hall, from Fox Chase Cancer Center (Philadelphia), say they deliberately chose IHC testing so that the pilot study would be applicable to community settings without on-site molecular testing capabilities, but they believe centers with more comprehensive universal MMR testing protocols could develop ePHR-based notification modules that report results of all elements in a summary format. The researchers will conduct a randomized trial to assess if a Web-based educational intervention coupled with the MMR screening result can improve downstream outcomes of MMR screening, including uptake of genetic testing among family members at risk for Lynch Syndrome. Takeaway: As laboratories and providers explore efficient means for direct return of results to patients, ePHRs seem to be acceptable for return of genetic test results.