scholarly journals SNP Selection and Concordance in Consumer Genetics Testing

2018 ◽  
Author(s):  
John F. Thompson
Keyword(s):  
Genetic Testing ◽  
Health Risks ◽  
Ethical Concerns ◽  
Direct To Consumer ◽  
Geographical Regions ◽  
The World ◽  
Unique Snps

AbstractThe use of Direct To Consumer (DTC) genetic testing for predicting health risks and a variety of other phenotypes has been extensively discussed. Additionally, there have been wide ranging discourses on privacy and ethical concerns. Much less attention has been paid to what most people actually use DTC testing for: ancestry determination. Furthermore, comparison of the platforms used by different companies and how they have chosen SNPs to address the questions of health and ancestry have not been broadly reported. When SNPs across three genotyping platforms are compared, only 16-18% of SNPs with reported genotypes are shared across all platforms. Only 110,051 of the more than 600,000 SNPs are called on all three panels examined (Ancestry, 23andMe and MyHeritage). SNPs genotyped on all platforms are highly concordant with only two SNPs having discordant calls. When the SNPs unique to a single panel are examined, it is apparent that each company has its own strategy for choosing SNPs. When each platform is examined, the unique SNPs have different frequencies, ethnic selectivities, and chromosomal locations. Because each company separates the world into different, overlapping geographical regions, it is impossible to do an exact comparison of ancestry results. Factoring in the ways the regions overlap, congruent results are generated for the major contributors to ancestry.

Buying your Self on the Internet

2019 ◽  
Author(s):  
Andelka M. Phillips
Keyword(s):  
Genetic Testing ◽  
Health Conditions ◽  
The Internet ◽  
Personal Genomics ◽  
Peace Of Mind ◽  
Direct To Consumer ◽  
The World ◽  
Different Types ◽  
Consumer Services ◽  
Specific Regulation

The personal genomics industry (aka direct-to-consumer genetic testing) has created a market for genetic tests as consumer services. This has taken genetic testing out of the clinic and into people’s homes. The industry is diverse offering tests for various health conditions and ancestry, as well as more dubious tests, such as ‘peace of mind’ paternity, ‘infidelity’ (or surreptitious testing), child talent, and even matchmaking. It is growing rapidly, but at present many tests are not standardized and the industry has not been subject to specific regulation. As with many other Internet based industries, companies tend to rely on their electronic wrap contracts to govern their relationships with their consumers. This book provides an introduction to the world of personal genomics and examines the rise of the industry and its use of ‘wrap’ contracts, drawing upon the author’s review of the contracts of 71 companies that provide tests for health purposes. It explores the different types of tests available and the issues that this industry raises for law and for society.

Experiences of individuals receiving “Not Parent Expected” (NPE) results through direct-to-consumer genetic testing

2021 ◽  
Vol 132 ◽  
pp. S289
Author(s):  
Julia Becker ◽  
Janey Youngblom ◽  
Brianne Kirkpatrick ◽  
Liane Abrams
Keyword(s):  
Genetic Testing ◽  
Direct To Consumer

scholarly journals An exploratory assessment of the applicability of direct-to-consumer genetic testing to translational research in Japan

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Masahiro Inoue ◽  
Shota Arichi ◽  
Tsuyoshi Hachiya ◽  
Anna Ohtera ◽  
Seok-Won Kim ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Translational Research ◽  
Drug Target ◽  
Target Genes ◽  
Healthy Individuals ◽  
Alcohol Sensitivity ◽  
Direct To Consumer ◽  
Disease States ◽  
Multiple Phenotypes ◽  
Related Phenotype

Abstract Objective In order to assess the applicability of a direct-to-consumer (DTC) genetic testing to translational research for obtaining new knowledge on relationships between drug target genes and diseases, we examined possibility of these data by associating SNPs and disease related phenotype information collected from healthy individuals. Results A total of 12,598 saliva samples were collected from the customers of commercial service for SNPs analysis and web survey were conducted to collect phenotype information. The collected dataset revealed similarity to the Japanese data but distinguished differences to other populations of all dataset of the 1000 Genomes Project. After confirmation of a well-known relationship between ALDH2 and alcohol-sensitivity, Phenome-Wide Association Study (PheWAS) was performed to find association between pre-selected drug target genes and all the phenotypes. Association was found between GRIN2B and multiple phenotypes related to depression, which is considered reliable based on previous reports on the biological function of GRIN2B protein and its relationship with depression. These results suggest possibility of using SNPs and phenotype information collected from healthy individuals as a translational research tool for drug discovery to find relationship between a gene and a disease if it is possible to extract individuals in pre-disease states by properly designed questionnaire.

scholarly journals Paracoccidioidomycosis Diagnosed in Europe—A Systematic Literature Review

2021 ◽  
Vol 7 (2) ◽  
pp. 157
Author(s):  
Gernot Wagner ◽  
Deddo Moertl ◽  
Anna Glechner ◽  
Verena Mayr ◽  
Irma Klerings ◽  
...  
Keyword(s):  
Latency Period ◽  
European Countries ◽  
Systemic Mycosis ◽  
Endemic Region ◽  
Travel History ◽  
Long Latency ◽  
Geographical Regions ◽  
The World ◽  
First Occurrence ◽  
Full Text Screening

Paracoccidioidomycosis is a systemic mycosis that is endemic in geographical regions of Central and South America. Cases that occur in nonendemic regions of the world are imported through migration and travel. Due to the limited number of cases in Europe, most physicians are not familiar with paracoccidioidomycosis and its close clinical and histopathological resemblance to other infectious and noninfectious disease. To increase awareness of this insidious mycosis, we conducted a systematic review to summarize the evidence on cases diagnosed and reported in Europe. We searched PubMed and Embase to identify cases of paracoccidioidomycosis diagnosed in European countries. In addition, we used Scopus for citation tracking and manually screened bibliographies of relevant articles. We conducted dual abstract and full-text screening of references yielded by our searches. To identify publications published prior to 1985, we used the previously published review by Ajello et al. Overall, we identified 83 cases of paracoccidioidomycosis diagnosed in 11 European countries, published in 68 articles. Age of patients ranged from 24 to 77 years; the majority were male. Time from leaving the endemic region and first occurrence of symptoms considerably varied. Our review illustrates the challenges of considering systemic mycosis in the differential diagnosis of people returning or immigrating to Europe from endemic areas. Travel history is important for diagnostic-workup, though it might be difficult to obtain due to possible long latency period of the disease.

scholarly journals Secondary Data Usage in Direct-to-Consumer Genetic Testing: To What Extent Are Customers Aware and Concerned?

2021 ◽  
pp. 1-8
Author(s):  
Janessa Mladucky ◽  
Bonnie Baty ◽  
Jeffrey Botkin ◽  
Rebecca Anderson
Keyword(s):  
Genetic Testing ◽  
Secondary Data ◽  
Structured Interviews ◽  
Customer Data ◽  
Secondary Use ◽  
Data Usage ◽  
Direct To Consumer ◽  
New Information ◽  
Opt Out ◽  
Potential Risks

Introduction: Customer data from direct-to-consumer genetic testing (DTC GT) are often used for secondary purposes beyond providing the customer with test results. Objective: The goals of this study were to determine customer knowledge of secondary uses of data, to understand their perception of risks associated with these uses, and to determine the extent of customer concerns about privacy. Methods: Twenty DTC GT customers were interviewed about their experiences. The semi-structured interviews were transcribed, coded, and analyzed for common themes. Results: Most participants were aware of some secondary uses of data. All participants felt that data usage for research was acceptable, but acceptability for non-research purposes varied across participants. The majority of participants were aware of the existence of a privacy policy, but few read the majority of the privacy statement. When previously unconsidered uses of data were discussed, some participants expressed concern over privacy protections for their data. Conclusion: When exposed to new information on secondary uses of data, customers express concerns and a desire to improve consent with transparency, more opt-out options, improved readability, and more information on future uses and potential risks from direct-to-consumer companies. Effective ways to improve readership about the secondary use, risk of use, and protection of customer data should be investigated and the findings implemented by DTC companies to protect public trust in these practices.

Sign in / Sign up

Export Citation Format

Share Document