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Who Are You?

September 19, 2019 dna 0
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Who Are You?

Hastings Cent Rep. 2018 11;48(6):inside front cover

Authors: Gilbert S

Abstract
At a time when our views on practically everything are polarized, there’s one thing that growing numbers of us agree on: we want genetic information about ourselves. About 15 million people have taken a direct-to-consumer genetic test, up from 4 million two years ago. Millions more are likely to give these tests as holiday gifts. Many people consider genetic findings deeply meaningful to their understanding of who they are. This information is a gift, but it is also a weight-a paradox that was the theme of a conference organized by my colleagues Erik Parens and Joel Michael Reynolds in October 2018. Genomic knowledge is a gift when, for example, it connects us with relatives whom we’re glad to meet. But it is a weight when it pigeonholes us into categories that suggest racial differences and possibly stereotypes.

PMID: 30586173 [PubMed – indexed for MEDLINE]

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[Mental diseases and genetic disposition: ethical aspects].

September 16, 2019 dna 0
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[Mental diseases and genetic disposition: ethical aspects].

Nervenarzt. 2019 Feb;90(2):114-120

Authors: Lanzerath D

Abstract
The handling of predictive genetic tests especially in the field of mental diseases requires a sensitive approach. In particular internet-based direct-to-consumer offers cannot provide an appropriate interpretation of the onset probabilistic data. Instead, a doctor-patient relationship should cater for clarity through hermeneutic and non-technicistic assistance with respect to the necessity of a test as well as with a view to the interpretation of the test results.

PMID: 30659310 [PubMed – indexed for MEDLINE]

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Genetic Testing in Clinical Settings.

September 12, 2019 dna 0
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Genetic Testing in Clinical Settings.

Am J Kidney Dis. 2018 10;72(4):569-581

Authors: Franceschini N, Frick A, Kopp JB

Abstract
Genetic testing is used for screening, diagnosis, and prognosis of diseases consistent with a genetic cause and to guide drug therapy to improve drug efficacy and avoid adverse effects (pharmacogenomics). This In Practice review aims to inform about DNA-related genetic test availability, interpretation, and recommended clinical actions based on results using evidence from clinical guidelines, when available. We discuss challenges that limit the widespread use of genetic information in the clinical care setting, including a small number of actionable genetic variants with strong evidence of clinical validity and utility, and the need for improving the health literacy of health care providers and the public, including for direct-to-consumer tests. Ethical, legal, and social issues and incidental findings also need to be addressed. Because our understanding of genetic factors associated with disease and drug response is rapidly increasing and new genetic tests are being developed that could be adopted by clinicians in the short term, we also provide extensive resources for information and education on genetic testing.

PMID: 29655499 [PubMed – indexed for MEDLINE]

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

September 2, 2019 dna 0
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Australians’ perspectives on support around use of personal genomic testing: Findings from the Genioz study.

Eur J Med Genet. 2019 May;62(5):290-299

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 – indexed for MEDLINE]

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

September 1, 2019 dna 0
Icon for Elsevier Science Icon for Elsevier Science Related Articles

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

Eur J Med Genet. 2019 May;62(5):290-299

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 – indexed for MEDLINE]