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gnomAD Consortium releases its first major studies of human genetic variation

May 28, 2020 dna 0
For the last eight years, the Genome Aggregation Database (gnomAD) Consortium (and its predecessor, the Exome Aggregation Consortium, or ExAC), has been working with geneticists around the world to compile and study more than 125,000 exomes and 15,000 whole genomes from populations around the world. Now, in seven articles, gnomAD Consortium scientists describe their first set of discoveries from the database, showing the power of this vast collection of data.
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Information Provided to Consumers about Direct-to-Consumer Nutrigenetic Testing.

May 27, 2020 dna 0
Icon for S. Karger AG, Basel, Switzerland Related Articles

Information Provided to Consumers about Direct-to-Consumer Nutrigenetic Testing.

Public Health Genomics. 2019;22(5-6):162-173

Authors: De S, Pietilä AM, Iso-Touru T, Hopia A, Tahvonen R, Vähäkangas K

Abstract
BACKGROUND: Nutrigenetic tests are often considered to be less serious compared to other health-related genetic tests, although they share similar ethical concerns. Nutrigenetic tests are mainly available through direct-to-consumer genetic testing (DTC GT) and increasing in popularity.
OBJECTIVE: To analyze the contents of nutrigenetic DTC GT websites with respect to the adequacy of the information provided to support a well-informed decision of purchasing the tests.
METHODS: The websites of DTC GT companies selling nutrigenetic tests that could be ordered online without involving any healthcare professional, available in English, marketing tests in Europe, the USA, Australia, or Canada, and accessible from Finland were included in the study (n = 38). Quantitative and qualitative content analyses of the websites were carried out with the help of a codebook.
RESULTS: Of the 38 websites, 8 included a clearly identifiable and easy-to-find information section about genetics. The quality and contents of these sections were often insufficient and/or misleading. Fourteen websites had specific sections discussing the risks related to GT, and on 13 signed informed consent was requested for GT. Furthermore, only 2 of the companies offered any kind of pretest consultation and 13 offered mostly separately charged posttest consultation. The complex structure of the websites made it difficult to find all key information, with many important aspects buried in legal documents, which were challenging to comprehend even for a professional.
CONCLUSION: The structure of the websites and the amount and quality of the content therein do not support a well-informed decision.

PMID: 31779000 [PubMed – indexed for MEDLINE]