There were individual differences in the directions and extent to which long-term changes occurred in general psychological (depressive symptoms, anxiety levels) measures and in the levels of situation-specific distress (impact of AD genetic testing) among the participants in this study after they received APOE
test results. In all, 9% of the participants who had low levels of depression at baseline reported clinically significant levels 12 months later. Although not clinically significant and it may be attributed to factors other than genetic testing,33
some additional participants showed an increase in general distress measures (CES-D and BAI) 12 months after receiving the test results.
Participants in this study also reported a wide range of perceived risk for developing AD before undergoing genetic testing. Reported changes in risk perceptions were not only very wide in range but also in different directions (ranging from a decrease of 75% to an increase of 100%) suggesting individual differences in reactions to the genetic susceptibility risk information. Similar to a previous report,34
risk assessment on the basis of APOE
genotype influences disease risk perceptions, as participants in the current study who were identified not to carry the risk version showed more decrease in perceived risk and AD concern compared with those who were identified to carry an
4 allele. Changes in perceived causes of AD were not observed in the current study possibly because of participants believing in the importance of genetics/heredity at baseline as all participants in this study chose to undergo APOE
testing, leaving little potential for changes to occur at the 6-week assessment.
Our results suggest that changes in beliefs and perceptions about the disease after the receipt of genetic susceptibility test results may influence how test recipients psychologically adapt over time. An increase in concern about developing AD shortly after receiving the test results was associated with an increase in depressive symptoms and anxiety levels, and higher distress associated with AD genetic testing 12 months later. Efforts to decrease AD concerns during the disclosure session (eg, reiterating the limitations of current risk assessment, using gain/loss framing of information, and highlighting research advances in the development of AD treatment), or tailoring resources to address specific concerns raised by test recipients may be beneficial in facilitating their long-term psychological adjustment. As
4-positive individuals reported more increase in AD concern compared with those who were
4 negative, the former group may especially benefit from additional support and intervention. Participants who were in the extended disclosure condition reported a significant decrease in AD concern, and hence, this may justify the provision of face-to-face pretesting genetic education.
Individuals who hold high levels of perceived risk before AD-susceptibility testing and those who report increase in this perception shortly after results disclosure may experience increase in depression or higher distress associated with APOE
testing. An average perceived risk reported by participants at baseline was about 50%, whereas the average risk estimates given to these participants was 32%. Almost 80% of the participants reported higher perceived risk than the risk estimate they received, with 50% overestimating by ≥20%. Although the perceived risk at the 6-week assessment became closer to the objective risk estimates provided to participants after testing compared with the perception at baseline, the correlation was only moderate (r
=0.41). Assessing perceived risk before and after individuals undergo genetic susceptibility testing may allow the identification of those who may benefit from additional interventions to move their perceptions toward levels closer to their objective estimated risk. As those who received positive results reported less decrease in risk perception, those who report high-risk perception at baseline and receive positive results can be targeted. Participants who believed genetics/heredity as important causes of AD at baseline to a lesser extent experienced increased depressive symptoms at 12 months. It may be that individuals with less knowledge about the role of genetics were affected more by the new information provided during the study than those who had higher awareness. Research on AD is progressing rapidly, and new potential preventive factors are being identified and evaluated.35
Providing up-to-date scientific knowledge may help prevent potential psychological consequences of providing genetic susceptibility test results.
As hypothesized, talking to a health-care professional about the APOE
test result was associated with a decrease in depressive symptoms, and talking to friends was associated with a decrease in anxiety levels over a year following testing. Learning about the condition or obtaining support within social networks can help individuals adapt to threatening personal health events.36
Sharing test results may have allowed some participants to obtain additional information or social and medical support to facilitate their general adaptation. However, it is important to consider potential negative aspects associated with sharing results with nonfamily members such as limitations in obtaining insurance or employment,22
as recipients of predictive testing for HD have expressed such concerns.37
As predictive value of the APOE
testing is much lower compared with the test for HD, recipients of APOE
testing may face such problems to a lesser extent. However, it may be helpful for genetic counselors to discuss both benefits and consequences of sharing test results during clinical contacts to help individuals make informed decisions. Given that legal protections against genetic discrimination do not cover the long-term care insurance industry, and our previous studies have suggested that individuals use genetic testing to inform insurance purchasing behavior,38, 39
this domain in particular may warrant discussion. Further studies investigating the content of communication are needed to understand the mechanisms through which interpersonal interactions may influence long-term psychological adjustment.
Communication to family and/or spouse was not significantly associated with psychological outcomes in this study. This may partly be due to low variability in responses among the participants (79% communicated). However, it may also be because disclosing genetic risk information to family members has positive and negative consequences that are different from disclosing to nonfamily members. Disclosing test results allows individuals to inform their family members of their risks and encourage preventive behaviors if available.19, 40, 41
At the same time, it may cause distress among family members if the condition is threatening, highly penetrant, and/or no effective preventive strategies are available (eg, HD).20, 42
Like HD, late-onset AD is a threatening neurodegenerative disorder without effective preventive strategies. However, the penetrance of AD in persons who are
4 positive is considerably lower and this may explain the nonsignificant impact of sharing results with family members in this study. Future studies would benefit by distinguishing different types of family members (eg, biological and nonbiological kin) to help decipher differential reasons for communication as well as distinct benefits and consequences of results sharing that may influence psychological adaptation of genetic susceptibility test recipients.
A majority of participants in this study were highly educated, limiting the generalizability of the results to a larger population. However, this study included 20% African-American participants, which is notable because of the general underrepresentation of this population in the field of genetic research. Assessments in this study were conducted through self-report. The reliability of one of the variables, AD concern, was rather low (r=0.67 and 0.60), potentially influencing its observed importance in the models. The results of this study should be interpreted while considering these limitations.