Australians’ perspectives on support around use of personal genomic testing: Findings from the Genioz study.

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Australians’ perspectives on support around use of personal genomic testing: Findings from the Genioz study.

Eur J Med Genet. 2018 Nov 12;:

Authors: Metcalfe SA, Hickerton C, Savard J, Stackpoole E, Tytherleigh R, Tutty E, Terrill B, Turbitt E, Gray K, Middleton A, Wilson B, Newson AJ, Gaff C

Abstract
Personal genomic testing using direct-to-consumer and consumer-directed models, with or without involvement of healthcare providers, is increasing internationally, including in Australia. This study forms a sub-set of the Genioz study – Genomics: National Insights of Australians. We aimed to explore Australians’ experiences with these types of tests, especially online DNA tests, and their views regarding whom they would seek support from around understanding test results. The study used a mixed methods approach, employing an exploratory quantitative online survey and follow-up qualitative semi-structured interviews. Between May 2016 and May 2017, 2841 Australians responded to the survey. Interviews were conducted with 63 purposively sampled respondents, including 45 who had a genetic test and 18 who had not. Of 571 respondents who had any type of genetic test, 322 had a personal genomic test using criteria defined by the researchers. Testing for ancestry/genealogy was the most common, reported by 267 participants, reflecting the increased advertising of these tests in Australia. Some respondents described downloading their raw data for further interpretation through third party websites for genealogical as well as health related information. Carrier testing, testing for serious and preventable conditions and nutrition and/or wellness were the most common health related tests reported by respondents. Participants generally preferred to seek support from general practitioners (GPs), medical specialists with relevant expertise and independent genetics specialists, although another important preference for non-health information was online forums and networks. There was less preference for seeking support from employees associated with the testing companies. Generally, of those who had a health related PGT, the most common actions were seeking medical advice or doing nothing with the information, while more of those who had a personal genomic test for nutrition and/or wellness sought advice from complementary/alternative health practitioners (eg naturopaths) and integrative GPs, and 60% reported they had changed their diet. As awareness of personal genomic testing increases, publicly funded clinical genetics services may be less inclined to discuss results from personal genomic testing. Genetic counsellors could play an important role in providing this support, both pre-test and post-test, through opportunities for private practice but independent from testing companies.

PMID: 30439534 [PubMed – as supplied by publisher]

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Genetic Testing by Sports Medicine Physicians in the United States: Attitudes, Experiences, and Knowledge.

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Genetic Testing by Sports Medicine Physicians in the United States: Attitudes, Experiences, and Knowledge.

Sports (Basel). 2018 Nov 12;6(4):

Authors: Taranto E, Fishman M, Benjamin H, Ross L

Abstract
It remains unknown whether and how sports medicine physicians currently utilize genetic testing in their clinical practice. This study sought to assess knowledge of, experience with, and attitudes towards genetic testing by sports medicine physicians in the United States (US). An email with a survey hyperlink was distributed twice to members of the American Medical Society for Sports Medicine (AMSSM) listserv in September 2016, with approximately a 10% response rate. Questions focused on knowledge of, experience with, and attitudes towards testing for different genes related to sports proficiency, injury risk, and disease risk. Few AMSSM physicians believe that genetic testing to adapt training (12%) or to choose a sport (2%) is ready for clinical adoption. Most respondents self-reported minimal knowledge about, and limited experience with, genetic testing. The main exception was screening for sickle cell trait (SCT) for which most (84%) reported moderate/significant/expert knowledge and over two-thirds had ordered testing. Although most respondents thought it appropriate to counsel and test for health conditions associated with cardiac and connective tissue disorders in the setting of a positive family history, only a minority had been asked to do so. Five or fewer respondents (2%) had been asked to test for performance-associated variants (Angiotensin Converting Enzyme (ACE) II and Alpha-Actinin 3 (ACTN3)), and five or fewer (2%) would recommend changes based on the results. Our study provides a baseline of current US sports medicine physicians’ minimal experiences with, and knowledge of, genetic testing. The findings of our study indicate that sports medicine physicians require further genetics education as it relates to sports and exercise in order to be prepared to competently engage with their patients and to develop sound professional organizational policies.

PMID: 30424536 [PubMed]

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Advances in multiple omics of natural-killer/T cell lymphoma.

Advances in multiple omics of natural-killer/T cell lymphoma. J Hematol Oncol. 2018 Dec 04;11(1):134 Authors: Xiong J, Zhao WL Abstract Natural-killer/T cell lymphoma (NKTCL) represents…

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Precision Medicine: Changing the way we think about healthcare.

Precision Medicine: Changing the way we think about healthcare. Clinics (Sao Paulo). 2018 Dec 03;73:e723 Authors: Gameiro GR, Sinkunas V, Liguori GR, Auler-Júnior JOC Abstract…

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