Dataset Information

Impacts of personal DNA ancestry testing.

ABSTRACT: Consumer uptake of direct-to-consumer (DTC) DNA ancestry testing is accelerating, yet few empirical studies have examined test impacts on recipients despite the DTC ancestry industry being two decades old. Participants in a longitudinal cohort study of response to health-related DTC genomic testing also received personal DNA ancestry testing at no additional cost. Baseline survey data from the primary study were analyzed together with responses to an additional follow-up survey focused on the response to ancestry results. Ancestry results were generated for 3466 individuals. Of those, 1317 accessed their results, and 322 individuals completed an ancestry response survey, in other words, approximately one in ten who received ancestry testing responded to the survey. Self-reported race/ethnicity was predictive of those most likely to view their results. While 46% of survey responders (N?=?147) reported their ancestry results as surprising or unexpected, less than 1% (N?=?3) were distressed by them. Importantly, however, 21% (N?=?67) reported that their results reshaped their personal identity. Most (81%; N?=?260) planned to share results with family, and 12% (N?=?39) intended to share results with a healthcare provider. Many (61%; N?=?196) reported test benefits (e.g., health insights), while 12% (N?=?38) reported negative aspects (e.g., lack of utility). Over half (N?=?162) reported being more likely to have other genetic tests in the future. DNA ancestry testing affected individuals with respect to personal identity, intentions to share genetic information with family and healthcare providers, and the likelihood to engage with other genetic tests in the future. These findings have implications for medical care and research, specifically, provider readiness to engage with genetic ancestry information.

SUBMITTER: Rubanovich CK

PROVIDER: S-EPMC7846620 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Impacts of personal DNA ancestry testing.

Rubanovich Caryn Kseniya CK Taitingfong Riley R Triplett Cynthia C Libiger Ondrej O Schork Nicholas J NJ Wagner Jennifer K JK Bloss Cinnamon S CS

Journal of community genetics 20200813 1

Consumer uptake of direct-to-consumer (DTC) DNA ancestry testing is accelerating, yet few empirical studies have examined test impacts on recipients despite the DTC ancestry industry being two decades old. Participants in a longitudinal cohort study of response to health-related DTC genomic testing also received personal DNA ancestry testing at no additional cost. Baseline survey data from the primary study were analyzed together with responses to an additional follow-up survey focused on the re ...[more]

PMID: 32789669

Similar Datasets

Project description:For samples of admixed individuals, it is possible to test for both ancestry effects via admixture mapping and genotype effects via association mapping. Here, we describe a joint test called BMIX that combines admixture and association statistics at single markers. We first perform high-density admixture mapping using local ancestry. We then perform association mapping using stratified regression, wherein for each marker genotypes are stratified by local ancestry. In both stages, we use generalized linear models, providing the advantage that the joint test can be used with any phenotype distribution with an appropriate link function. To define the alternative densities for admixture mapping and association mapping, we describe a method based on autocorrelation to empirically estimate the testing burdens of admixture mapping and association mapping. We then describe a joint test that uses the posterior probabilities from admixture mapping as prior probabilities for association mapping, capitalizing on the reduced testing burden of admixture mapping relative to association mapping. By simulation, we show that BMIX is potentially orders-of-magnitude more powerful than the MIX score, which is currently the most powerful frequentist joint test. We illustrate the gain in power through analysis of fasting plasma glucose among 922 unrelated, non-diabetic, admixed African Americans from the Howard University Family Study. We detected loci at 1q24 and 6q26 as genome-wide significant via admixture mapping; both loci have been independently reported from linkage analysis. Using the association data, we resolved the 1q24 signal into two regions. One region, upstream of the gene FAM78B, contains three binding sites for the transcription factor PPARG and two binding sites for HNF1A, both previously implicated in the pathology of type 2 diabetes. The fact that both loci showed ancestry effects may provide novel insight into the genetic architecture of fasting plasma glucose in individuals of African ancestry.

Project description:In this era of clinical genomics, the accumulation of knowledge of pharmacogenomics (PGx) is rising dramatically and attempts to utilize it in clinical practice are also increasing. However, this advanced knowledge and information have not yet been sufficiently utilized in the clinical field due to various barriers including physician factors. This study was conducted to evaluate the attitudes of physicians to PGx services by providing them their own genomic data analysis report focusing on PGx. We also tried to evaluate the clinical applicability of whole exome sequencing (WES)-based functional PGx test. In total 88 physicians participated in the study from September 2015 to August 2016. Physicians who agreed to participate in the study were asked to complete a pre-test survey evaluating their knowledge of and attitude toward clinical genomics including PGx. Only those who completed the pre-test survey proceeded to WES and were provided with a personal PGx analysis report in an offline group meeting. Physicians who received these PGx reports were asked to complete a follow-up survey within two weeks. We then analyzed changes in their knowledge and attitude after reviewing their own PGx analysis results through differences in their pre-test and post-test survey responses. In total, 70 physicians (79.5%) completed the pre-test and post-test surveys and attended an off-line seminar to review their personal PGx reports. After physicians reviewed the report, their perception of and attitude towards the PGx domain and genomics significantly changed. Physician' awareness of the likelihood of occurrence of adverse drug reactions and genetic contribution was also changed significantly. Overall, physicians were very positive about the value and potential of the PGx test but maintained a conservative stance on its actual clinical use. Results revealed that physicians' perception and attitude to the utility of PGx testing was significantly changed after reviewing their own WES results.

Dataset Information

Impacts of personal DNA ancestry testing.

Publications

Impacts of personal DNA ancestry testing.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets