Genome-wide association studies are rapidly increasing our understanding of the complex genetic architecture of alcohol use disorder (AUD), as well as related substance use and psychiatric conditions [1
]. One goal of genome-wide association studies (GWAS) is to generate findings that can be used for enhanced clinical prediction in the future [5
]. Genome-wide polygenic scores for AUD created from GWAS studies index an individual’s overall genetic risk across the genome, which can aid in identifying individuals at-risk for AUD to help improve current prevention strategies and aid in earlier intervention. Presently, genome-wide polygenic scores capture about 2.5–3.5% of the variance for AUD [7
]. Despite the low predictive ability of current genome-wide polygenic scores, personalized genetic information is already being provided to increasingly large numbers of the public [8
]. Public websites allow individuals to upload raw genetic data obtained from direct-to-consumer genetic tests to compute genetic risk scores for a variety of conditions. User data from one of these popular websites (impute.me) illustrates an exponential increase in accessing genetic risk scores over the last several years with alcohol dependence being the third most accessed genetic risk score out of >1500 conditions [8
However, there are concerns that individuals may misinterpret or misunderstand their complex genetic results. There is wide variability in genetic literacy across extant studies, ranging from 42.2–83.6% accuracy [9
]. Studies have examined whether demographic variables, such as gender, education/income, or race/ethnicity, are associated with individuals’ genetic literacy; however, findings have been mixed [10
]. Concerningly, there is evidence of substantial misunderstanding of complex genetic concepts. A large survey (N
> 5000) of participants with at least a secondary education, from 78 countries, found that 30% of participants assumed that one individual gene was responsible for causing complex disorders and 25% of participants agreed with the statement that their destiny was written in their genes [10
]. Additionally, an Australian-based study found that approximately 25% of respondents misunderstood the role of environmental factors in complex disease [16
]; they did not understand that lifestyle choices as well as other environmental factors could reduce the expression of a genetic predisposition. These misinterpretations related to genetic susceptibility to complex conditions are likely to impact how individuals interpret their personalized genetic feedback that suggests they are at increased risk for a condition.
In order to gauge interest in receiving genetic feedback for AUD and to assess individuals’ understanding of the role of genetic and environmental influences in complex psychiatric conditions, we conducted a survey in a sample of participants recruited from a registry that enrolled incoming cohorts of freshman at a diverse urban public university [17
]. Young adults are the focus of this study because they are at higher risk for AUD, with rates of AUD peaking in the 20s, as well as entering a high-risk age range for the onset of many psychiatric conditions [18
]. College students in particular are at an elevated risk compared to non-college attending peers due to higher rates of alcohol use [19
]. Additionally, youth and young adults are high consumers of new technologies, with a majority using various digital technologies to access health information [20
]. Therefore, emerging adults may be more likely to access their genetic risk information as well as more likely to benefit from receiving genotypic information for AUD, which uniquely positions emerging adults as the target population for this study.
The purpose of this study was to gauge individuals’ interest in receiving genetic feedback for AUD and related psychiatric conditions, examine variables associated with interest in genetic feedback, and assess genetic knowledge as it relates to psychiatric conditions in a sample of young adults. We hypothesized that a significant proportion of the sample (~80%) would be interested in receiving genetic feedback for AUD, based on studies of older individuals [21
]. Additionally, we hypothesized that there would be a sizable proportion (~25%) of participants with poor genetic knowledge related to substance use and mental health conditions based on current literature that shows 25–30% of individuals have misconceptions about the meaning of genetic risk and the genetics of complex diseases [10
]. Our hypotheses were pre-registered using the Open Science Framework (osf.io/v4eaw).
To our knowledge, this is the first study to assess interest in receiving genetic feedback for AUD in a sample of young adults. Interest in receiving genetic feedback for AUD, as well as other related substance use disorders and mental health conditions, was high in this sample. These findings align with the previous literature that assesses interest in samples with a broader age range [21
], and is in keeping with trends of increased access of direct-to-consumer genetic testing [34
]. Additionally, our results indicate that interest in receiving genetic feedback for substance use and psychiatric conditions is more general, rather than interest in receiving feedback for only one specific condition, in fact, 60.0% of the sample was interested in receiving feedback for all five conditions.
Variables related to interest in receiving genetic feedback for AUD include racial/ethnic background, cannabis use, and genetic knowledge. Individuals who self-identified as a racial/ethnic minority were less likely to indicate interest in genetic feedback. This may be related to the historical biomedical abuses related to genetics and racial/ethnic discrimination [35
]. However, race/ethnicity was not associated with interest in receiving genetic feedback for the other substance use and psychiatric conditions, suggesting that racial/ethnic differences were specific to interest in receiving genetic feedback for AUD. Since our sample included 18.3% Asian/Asian American and 13.4% African American/Black individuals and lifetime prevalence of alcohol dependence and AUD is lower in these populations [36
], this may in part contribute to the racial/ethnic differences in interest in feedback for AUD. Due to the smaller sample size of each racial/ethnic group, we categorized race/ethnicity as binary, which limited our ability to assess differences between each of the subgroups. Additionally, genetic knowledge was only associated with interest in receiving genetic feedback for AUD but not the other conditions. The association between positive family history of alcohol problems and interest in receiving feedback for AUD was marginally significant, which may be a limitation of the smaller sample size.
Cannabis use was associated with interest in receiving genetic feedback for AUD, as well as NUD, CUD, and depression, suggesting it may be a more general predictor of interest in receiving genetic feedback for substance use and related psychiatric conditions rather than specific to one condition. This may be because cannabis use is a more general indicator of concern about one’s health; these individuals may realize they are engaging in less normative, unhealthy behavior and be concerned. Additionally, both nicotine use and cannabis use were associated with interest in receiving genetic feedback for NUD and CUD, again showing that participants may realize these behaviors are unhealthy, and thus, they are interested in their genetic risk related to developing NUD or CUD. It is also important to note that a majority of participants (53–62%) who do not use nicotine or cannabis were still interested in receiving genetic feedback for NUD and CUD, re-emphasizing the idea that participants have a general curiosity about their genetic risk for substance use conditions. Interestingly, our results indicated that frequency of alcohol use was not associated with interest in receiving genetic feedback for any substance use or psychiatric condition. This may be due to the fact that alcohol use is nearly ubiquitous in our sample, with 91.2% reporting some level of alcohol use.
Our results also showed high interest in receiving feedback for mental health conditions with 90.2% of the sample interested in receiving genetic feedback for anxiety and 88.8% of the sample interested in receiving genetic feedback for depression. Individuals with a positive family history of depression/anxiety were more likely to indicate interest compared to individuals without a family history of depression/anxiety. High interest in these outcomes may reflect the high levels of internalizing symptoms reported in the sample (see Table 3
) and more generally in emerging adults [37
]. These rising rates of anxiety and depression in this age group is a growing issue that has received a lot of recent attention [38
]. In addition, the high rates of interest could be inflated by the higher prevalence of individuals with a positive family history of depression/anxiety in this sample compared to the full sample of individuals invited to complete the survey. Although the only significant association between the variables of interest and interest in receiving feedback for anxiety is family history of depression/anxiety, the results are trending in a similar direction for variables associated with interest in receiving genetic feedback for depression including a positive family history of alcohol problems and higher depressive symptoms.
It was promising to see that genetic knowledge as it relates to psychiatric conditions is relatively high in this sample. Even though individuals in this sample have at least a partial college education, there is still a sizable proportion (25.4%) of the sample that had a lack of understanding of the role of genetic and environmental factors in complex psychiatric conditions. These findings align with previous literature that demonstrates approximately 25–30% of participants have misconceptions regarding genetics of complex disorders [10
]. Additionally, demographic characteristics, substance use and mental health variables, and family history were not associated with individuals’ understanding of genetic concepts related to psychiatric conditions. Therefore, additional research is needed to further understand what factors are associated with genetic knowledge. More generally, the fact that a sizable proportion of the sample had a poor understanding of genetic concepts related to substance use and related psychiatric conditions underscores the critical need to provide education alongside receiving genetic feedback for all individuals. Further, because individuals with lower genetic knowledge are less likely to understand complex genetic results, it would be important to examine how best to support their understanding of personalized genetic feedback.
Our findings need to be interpreted in light of several limitations. First, one of the inclusion criteria for participant recruitment was having available GWAS data. This may contribute to the high interest because these participants already consented and provided DNA samples and could be more open to receiving genetic feedback compared to the general population. However, it is important to note that nearly all of the individuals who participated in the overall S4S registry survey component provided a DNA sample (97%), suggesting they are not a highly selected sample. Second, in regards to genetic knowledge, this sample is educated, and have received at least a partial college education, which could inflate the genetic knowledge scores. A more diverse sample is needed to understand genetic knowledge as it relates to psychiatric conditions in the general public. Third, our sample was primarily female (76.5%) and White (58.9%), thus limiting our ability to test sex differences and differences between racial/ethnic background. Our findings may be more representative for females.
Despite these limitations, the findings of this study elucidate the importance of additional research related to the return of genetic feedback for AUD and related outcomes. Individuals are highly interested in receiving their genetic feedback for substance use disorders and mental health conditions, but there is a sizable proportion of individuals who might not have the knowledge needed to properly interpret and understand their results. Research is needed to develop and evaluate effective and efficient ways to communicate complex personalized genetic risk information for AUD and related substance use and psychiatric conditions, as well as to understand the impact of receiving genetic risk information for these conditions on the individual.