Authors, year | Research question/design | Sample (n) | Outcome measures | Instruments | Time points | Results | |||
---|---|---|---|---|---|---|---|---|---|
Studies on psychological effects | |||||||||
Romero et al., 2005 [30] | Participants were asked how they felt after disclosure of their APOE genotype | 76 | Self-developed questionnaire | ε4-negative group | ε4-positive group | ||||
Feeling depressed | 1 month | 0/49 | 8/27 | ||||||
4 months | 0/49 | 5/27 | |||||||
10 months | 0/47 | 4/27 | |||||||
Feeling worried | 1 month | 0/49 | 6/27 | ||||||
4 months | 0/49 | 3/27 | |||||||
10 months | 0/47 | 3/27 | |||||||
Feeling relieved | 1 month | 36/49 | 4/27 | ||||||
4 months | 30/49 | 5/27 | |||||||
10 months | 34/47 | 3/27 | |||||||
Gooding et al., 2006 (REVEAL QRI) [25] | 56 participants in the REVEAL I study and four individuals who declined participation were interviewed about their reaction to the received results (either risk estimate and genotype or risk estimate only) | 60a | Coping: | Interviews | >12 months | ε4-positive group | Other (ε4-, ND, not REVEAL-ptc) | ||
Relief | 4/17 (24 %) were relieved: “Even with the ε4 allele, their risk was not as high as they had previously anticipated” | 25/43 felt relievedb | |||||||
Worry | Six participants, all ε4+, expressed greater concern about their AD risk after disclosure, describing their results as “depressing”, “frightening” and “disappointing” | 14/39 who participated in REVEAL were neither relieved nor worried | |||||||
Neither | 7/17 were neither relieved nor worried. They related their “lack of emotion to the lack of predictability of the APOE test and the feeling that it only confirmed what they had already come to accept as their risk for AD” | ||||||||
Green et al., 2009 [23] (REVEAL I) | Participants were randomly assigned to receive their APOE genotype and a risk estimate (ε4-positive and ε4-negative group) or a risk estimate only (no disclosure group) | 162 | ε4-positive group | ε4-negative group | No disclosure group | ||||
Anxiety | BAI (0–63) | 6 weeks | 5.2 (0.7)c | 4.5 (0.6) | 4.4 (0.7)c | ||||
6 months | 4.6 (0.6) | 3.9 (0.6) | 4.6 (0.6) | ||||||
12 months | 4.4 (0.6) | 4.2 (0.6) | 4.2 (0.6) | ||||||
Depression | CES-D (0–60) | 6 weeks | 9.0 (1.0) | 8.5 (0.9) | 9.3 (1.0) | ||||
6 months | 9.6 (1.0) | 8.9 (1.0) | 8.7 (1.0) | ||||||
12 months | 8.3 (0.9) | 8.5 (0.9) | 8.0 (0.9) | ||||||
Distress | IES (0–75) | 6 weeks | 9.4 (1.3)d | 5.2 (1.3) | 6.7 (1.4) | ||||
6 months | 8.6 (1.2)d | 4.2 (1.2) | 8.9 (1.3)e | ||||||
12 months | 8.5 (1.3) | 5.1 (1.2) | 7.7 (1.5) | ||||||
Ashida et al., 2010 (REVEAL II) [31] | Participants in the REVEAL II study all received their APOE genotype, and were randomly assigned to either an extended or condensed disclosure protocol | 269 | Effect of results communication on psychological well-being: | “Have you told anyone your APOE genetic test result? If so, who?” | 6 weeks | 62.1 % told a family member, 52 % their spouse or significant other, 37.5 % a friend and 14.9 % a health professional | |||
Anxiety | BAI | 12 months | Telling the result to a friend was associated with a decrease in BAI at 12 months (regression coefficient b = –0.17, p < 0.01) | ||||||
Depression | CES-D | Telling the result to a healthcare professional with a decrease in CES-D at 12 months (regression coefficient b = –0.10, p < 0.05) | |||||||
Distress | IGT-ADf (0–60) | There was no association between results communication and IGT-AD levels of distress | |||||||
24 participants (9 %) reported scores > than the clinical cutoff point of 16 on the CES-D at 12 months, and 21 of these 24 had scores < the cutoff at baseline | |||||||||
Lineweaver et al., 2014 [32] | A group of research participants who were informed about their APOE genotype was compared with a matched group who did not receive their genotype on objective and subjective memory functioning | 144 | Objective memory functioning Subjective memory functioning | Logical memory subtest | Mean 8.2 months | ε4-positive uninformed | ε4-positive informed | ε4-negative uninformed | ε4-negative informed |
immediate recall | 31.9 (8.5)h | 22.9 (7.8) | 28.4 (7.8) | 25.6 (5.9) | |||||
delayed recall Wechsler Memory Scale Revised (0–50)g | 28.1 (9.3)h | 17.7 (7.9) | 24.3 (9.6) | 20.6 (6.9) | |||||
Immediate recall delayed recall on Rey–Osterrieth Complex Figure test (0–20) | 9.7 (2.7) | 10.6 (2.6) | 9.3 (3.7) | 9.7 (3.1) | |||||
9.0 (3.1) | 10.1 (2.4) | 9.0 (4.0) | 9.9 (2.8) | ||||||
Metamemory in Adulthood Questionnaire: | |||||||||
Capacity subscale Change over time subscale (15 items 5-point Likert scale) | 31.2 (5.2)i | 28.0 (6.4) | 27.8 (6.5)j | 30.5 (4.7) | |||||
17.0 (5.4) | 16.9 (5.5) | 15.9 (4.9) | 16.7 (4.1) | ||||||
Memory Functioning Questionnaire: | |||||||||
Retrospective functioning | 18.3 (5.8) | 15.9 (4.7) | 14.3 (4.1)k | 16.7 (4.7) | |||||
Frequency of forgetting | 90.5 (14.7) | 83.4 (13.3) | 84.5 (17.0) | 88.9 (13.4) | |||||
Forgetting when reading | 54.9 (8.4) | 50.7 (9.3) | 50.5 (13.1)k | 55.5 (8.8) | |||||
Forgetting past events | 19.2 (4.6) | 18.3 (4.3) | 18.1 (4.9) | 19.9 (4.5) | |||||
Mnemonics usage (46 items with 7-point Likert scale) | 23.1 (11.4) | 20.3 (7.4) | 22.8 (9.5) | 25.1 (8.4) | |||||
Green et al., 2014 (REVEAL II) [29] | Participants were randomly assigned to receive their APOE genotype in an extended protocol (SP-GC), a condensed protocol with a genetic counselor (CP-GC) or medical doctor (CP-MD). Aim was to assess whether the condensed protocols were equal (= mean score on any of the scales not more than 5 points higher) to the extended protocol | 343 | SP-GC | CP-GC | CP-MD | ||||
Anxiety | BAI (0–63) | 6 weeks | 2.6 (0.5)c | 3.6 (0.5) | 4.3 (0.5) | ||||
6 months | 3.2 (0.5) | 3.1 (0.5) | 4.4 (0.5) | ||||||
12 months | 3.0 (0.5) | 3.7 (0.5) | 3.9 (0.5) | ||||||
Depression | CES-D (0–60) | 6 weeks | 5.7 (0.7) | 5.8 (0.7) | 8.1 (0.7) | ||||
6 months | 6.3 (0.7) | 5.8 (0.7) | 8.1 (0.7) | ||||||
12 months | 6.2 (0.6) | 5.6 (0.6) | 6.9 (0.6) | ||||||
Distress | IES (0–75) | 6 weeks | 2.8 (0.9) | 5.1 (0.9) | 8.2 (0.9)l | ||||
6 months | 3.9 (0.9) | 4.0 (0.9) | 7.0 (0.9)l | ||||||
12 months | 3.4 (0.8) | 3.3 (0.8) | 5.5 (0.8) | ||||||
Studies on behavioral effects | |||||||||
Zick et al., 2005 (REVEAL I) [24] | REVEAL I, see Green et al., 2009 [23] | 162 | Insurance uptake | Questionnaires on actual change in | 6 weeks, 6 months, 12 months | ε4-positive group | ε4-negative group | No disclosure group | |
Health insurance | 12.5 | 5.56 | 6.52 | ||||||
Life insurance | 2.08 | 7.41 | 6.52 | ||||||
Disability insurance | 4.17 | 3.70 | 4.35 | ||||||
LTC insurance (%) | 16.7m | 1.85 | 4.35 | ||||||
Planned change in | |||||||||
Health insurance | 25.0 | 13.0 | 23.9 | ||||||
Life insurance | 16.67 | 5.56 | 4.35 | ||||||
Disability insurance | 18.8 | 7.41 | 8.70 | ||||||
LTC insurance (%) | 45.8m | 22.2 | 32.6 | ||||||
OR for actual change in LTC insurance ε4+ compared with ND: 5.76 (p < 0.1) | |||||||||
Taylor et al., 2010 (REVEAL II) [34] | REVEAL II, see Green et al., 2014 [29] | 276 | LTC insurance | Not reported | Not reported | Two ε3 traits | ≥ one ε4 trait | At least one ε2 trait, no ε4 trait | |
OR of actual or planned change | 1.00 | 2.31 (95 % CI 1.11–4.81) | 1.55 (95 % CI 0.43–5.60) | ||||||
Absolute probability of changing LTC insurance | 0.087 | 0.237 | 0.149 | ||||||
Chao et al., 2008 (REVEAL I) [22] | REVEAL I, see Green et al., 2009 [23] | 162 | Health-related behavior changes | Yes/no questions about changes in: | 12 months | ε4-positive group | ε4-negative group | no disclosure group | |
Any behavior specific to AD prevention | 52n | 24 | 30 | ||||||
Medications/vitamins | 40 | 20 | 28 | ||||||
Diet | 20 | 11 | 7 | ||||||
Exercise (% endorsing) | 8 | 4 | 5 | ||||||
OR of any behavior change ε4+ vs ε4– group: 2.73 (95 % CI 1.14–6.54) | |||||||||
Vernarelli et al., 2010 (REVEAL II) [33] | REVEAL II, see Green et al., 2014 [29] | 272 | Changes in supplement use | Yes/no questions with free-text field on changes in: overall diet use of dietary supplements exercise (ORs) | 6 weeks | ε4-positive group | ε4-negative group | ||
1.56 (95 % CI 0.80–3.02) | 1.00 | ||||||||
4.75 (p < 0.0001) (95 % CI 2.23–10.10) | 1.00 | ||||||||
1.85 (95 % CI 0.96–3.57) | 1.00 | ||||||||
Of 45 participants reporting a change in supplement use, 32 (71.1 %) were ε4+ (p < 0.0001). Of these 45, 38 were in the condensed protocol (84.4 %) and seven in the extended (15.5 %) (p = 0.006) | |||||||||
Christensen et al., 2015 (REVEAL II/III) [27] | Secondary analyses were performed on data from the REVEAL II and III study. For REVEAL II, see Green et al., 2014 [29]. In the REVEAL III study, in-person and phone disclosure, and giving AD genetic info only and pleiotropic info were compared | 795 | Associations between recruitment status (actively recruited (ARP) or self-referred (SRP)) and behavior changes and advance planning | Yes/no questions on actual and planned changes in: | 6 weeks, 12 months | Self-referred participants were more likely than ARPs to report changes to exercise at 12 months (35 % vs 25 %, p = 0.032). No other differences between recruitment cohorts were noted on changes or plans to change health behaviors | |||
Health behavior: Mental activities Diet Exercise Dietary supplements Medications | Secondary analyses showed that the impact of genetic risk status on certain behavior changes differed by recruitment cohort. ε4-positive participants were more likely than ε4-negative participants to report changes at 6 weeks to mental activities and diet, but only if they had self-referred to the study, although only differences in changes to mental activities persisted through the 12-month follow-up | ||||||||
Advance planning: LTC insurance Retirement plans | No direct associations with self-referral were observed on either LTC insurance coverage or retirement plans. An interaction effect was observed (p = 0.005): self-referred ε4-positive participants were more likely than ε4-negative participants to report intentions to change LTC coverage, but no differences were noted among ARPs | ||||||||
No associations were noted on retirement plans, except greater intentions to change among ε4-positive participants compared with ε4-negative participants, regardless of recruitment cohort (p < 0.001) | |||||||||
Studies on hypothetical disclosure | |||||||||
Caselli et al., 2014 [28] | Members of an online community for people interested in AD prevention research completed a survey on their interest in and anticipated reaction to hypothetical genetic and biomarker testing and disclosure | 4036 | Results communication | Multiple-choice questions | Not applicable | If APOE ε4 positive, you would tell: | (%) | ||
Physician | 79.4 | ||||||||
Spouse | 92.3 | ||||||||
Siblings | 84.6 | ||||||||
Children | 81.7 | ||||||||
Friends | 53 | ||||||||
Lawyer | 60 | ||||||||
If biomarker evidence of AD, you would tell: | |||||||||
Spouse | 92.2 | ||||||||
Siblings | 80.6 | ||||||||
Children | 75.9 | ||||||||
Friends | 46.5 | ||||||||
Lawyer | 53.8 | ||||||||
Behavior changes | If APOE ε4 positive, you would: | (%) | |||||||
Begin a healthier lifestyle | 90.5 | ||||||||
Get LTC insurance | 76.3 | ||||||||
Spend all your money forpleasure | 18.4 | ||||||||
Seriously consider suicide | 11.6 | ||||||||
If biomarker evidence of AD, you would: | |||||||||
Begin a healthier lifestyle | 91 | ||||||||
Get LTC insurance | 76.6 | ||||||||
Spend all your money for pleasure | 18.7 | ||||||||
Seriously consider suicide | 10.2 | ||||||||
Studies on social effects | |||||||||
Ashida et al., 2009 (REVEAL II) [35] | REVEAL II, see Green et al., 2014 [29] | 271 | Communication of APOE genetic test result | “Have you told anyone your APOE genetic test result? If so, who?” | 6 weeks | Person | Frequency (%) | ||
Anyone | 81.5 | ||||||||
Family member | 63.8 | ||||||||
Spouse/significant other | 50.9 | ||||||||
Friends | 34.7 | ||||||||
Health professional | 12.2 | ||||||||
OR of results communication to health professional in condensed vs extended protocol 5.19 (95 % CI 1.50–17.89, p < 0.01) | |||||||||
Chilibeck et al., 2011 (REVEAL I) [26] | Interviews were conducted with participants from REVEAL I and with FDRs of AD patients who did not undergo genetic testing | 79 (REVEAL participants) and 40 (non-REVEAL) | Effect of personalized genetic information on conceptualization of personal risk, family health and familial relationships | Open-ended interviews | Not reported | Drawn from the report: when genetic information corresponds with previous beliefs about risk and inheritance, people emphasize how the information provided by genetic testing is “not new” to them but only confirms what they already knew or at least suspected. Yet risk predictions generated by genetic technologies sometimes conflict with those rooted in everyday beliefs about heredity. The visible evidence of risk provided by family history is often more compelling than that based on a genetic test | |||
Conclusion: “The genetic risk information given to subjects in the REVEAL trial is interpreted through a process of ‘familiarization’ in which risk estimates are absorbed into and embedded within pre-existing beliefs about who in the family will succumb to AD. These narratives resemble those of individuals from AD families who have not been genetically tested, strongly suggesting that ideas about embodied risk for AD in families are not dramatically changed as a result of genetic testing.” |