The sense and nonsense of direct-to-consumer genetic testing for cardiovascular disease
TLDR
Predictive genetic testing for multifactorial forms of cardiovascular disease clearly lacks benefits for the public and prevention of disease should remain focused on family history and on non-genetic risk factors as diet and physical activity that can have the strongest impact on disease risk, regardless of genetic susceptibility.Abstract:
Expectations are high that increasing knowledge of the genetic basis of cardiovascular disease will eventually lead to personalised medicine—to preventive and therapeutic interventions that are targeted to at-risk individuals on the basis of their genetic profiles. Most cardiovascular diseases are caused by a complex interplay of many genetic variants interacting with many non-genetic risk factors such as diet, exercise, smoking and alcohol consumption. Since several years, genetic susceptibility testing for cardiovascular diseases is being offered via the internet directly to consumers. We discuss five reasons why these tests are not useful, namely: (1) the predictive ability is still limited; (2) the risk models used by the companies are based on assumptions that have not been verified; (3) the predicted risks keep changing when new variants are discovered and added to the test; (4) the tests do not consider non-genetic factors in the prediction of cardiovascular disease risk; and (5) the test results will not change recommendations of preventive interventions. Predictive genetic testing for multifactorial forms of cardiovascular disease clearly lacks benefits for the public. Prevention of disease should therefore remain focused on family history and on non-genetic risk factors as diet and physical activity that can have the strongest impact on disease risk, regardless of genetic susceptibility.read more
Citations
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Journal ArticleDOI
A common variant on chromosome 9p21 affects the risk of myocardial infarction
Anna Helgadottir,Gudmar Thorleifsson,Andrei Manolescu,Solveig Gretarsdottir,Thorarinn Blondal,Aslaug Jonasdottir,Abalbjorg Jonasdottir,Asgeir Sigurdsson,Adam Baker,Arnar Palsson,Gisli Masson,Daniel F. Gudbjartsson,Kristinn P. Magnusson,Karl Andersen,Allan I. Levey,Valgerdur M Backman,Sigurborg Matthiasdottir,Thorbjorg Jonsdottir,Stefan T Palsson,Helga Einarsdottir,Steinunn Gunnarsdottir,Arnaldur Gylfason,Viola Vaccarino,W. Craig Hooper,Muredach P. Reilly,Christopher B. Granger,Harland Austin,Daniel J. Rader,Svati H. Shah,Arshed A. Quyyumi,Jeffrey R. Gulcher,Gudmundur Thorgeirsson,Unnur Thorsteinsdottir,Augustine Kong,Kari Stefansson +34 more
TL;DR: An association between myocardial infarction and a common sequence variant on chromosome 9p21 was associated with the disease with high significance and approximately 21% of individuals in the population are homozygous for this variant, and their estimated risk of suffering myocardious disease is 1.64 times as great as that of noncarriers.
Journal ArticleDOI
Direct-to-consumer personalized genomic testing
Cinnamon S. Bloss,Burcu F. Darst,Eric J. Topol,Eric J. Topol,Nicholas J. Schork,Nicholas J. Schork +5 more
TL;DR: DTC genomic testing for common markers and conditions is only a precursor to the eventual cost-effectiveness and wide availability of whole genome sequencing of individuals, although it remains unclear whether DTC genomic information will still be attainable.
Journal ArticleDOI
A randomized trial of genetic information for personalized nutrition.
Daiva E. Nielsen,Ahmed El-Sohemy +1 more
TL;DR: It is suggested that individuals find dietary recommendations based on genetics more understandable and more useful than general dietary advice.
Journal ArticleDOI
Informed Consent in Direct-to-Consumer Personal Genome Testing: The Outline of A Model between Specific and Generic Consent
TL;DR: It is argued that current practices of information provision are insufficient and that there is a place--and a need--for informed consent in personal genome testing, also when it is offered commercially.
Journal ArticleDOI
Direct-to-consumer personal genomic testing: a case study and practical recommendations for “genomic counseling”.
TL;DR: This case presents a unique learning experience for the field of genomic counseling, as the patient did not fit the typical assumptions regarding ‘early adopters’ of DTC testing and allowed the genetics health care providers involved in the case to identify gaps in current genetic counseling practice.
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A Common Variant on Chromosome 9p21 Affects the Risk of Myocardial Infarction
Anna Helgadottir,Gudmar Thorleifsson,Andrei Manolescu,Solveig Gretarsdottir,Thorarinn Blondal,Aslaug Jonasdottir,Abalbjorg Jonasdottir,Asgeir Sigurdsson,Adam Baker,Arnar Palsson,Gisli Masson,Daniel F. Gudbjartsson,Kristinn P. Magnusson,Karl Andersen,Allan I. Levey,Valgerdur M Backman,Sigurborg Matthiasdottir,Thorbjorg Jonsdottir,Stefan T Palsson,Helga Einarsdottir,Steinunn Gunnarsdottir,Arnaldur Gylfason,Viola Vaccarino,W. Craig Hooper,Muredach P. Reilly,Christopher B. Granger,Harland Austin,Daniel J. Rader,Svati H. Shah,Arshed A. Quyyumi,Jeffrey R. Gulcher,Gudmundur Thorgeirsson,Unnur Thorsteinsdottir,Augustine Kong,Kari Stefansson +34 more
TL;DR: An association between myocardial infarction and a common sequence variant on chromosome 9p21 was associated with the disease with high significance and approximately 21% of individuals in the population are homozygous for this variant, and their estimated risk of suffering myocardious disease is 1.64 times as great as that of noncarriers.
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Sekar Kathiresan,Olle Melander,Dragi Anevski,Candace Guiducci,Noël P. Burtt,Charlotta Roos,Joel N. Hirschhorn,Göran Berglund,Bo Hedblad,Leif Groop,David Altshuler,Christopher Newton-Cheh,Marju Orho-Melander +12 more
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Journal ArticleDOI
A common variant on chromosome 9p21 affects the risk of myocardial infarction
Anna Helgadottir,Gudmar Thorleifsson,Andrei Manolescu,Solveig Gretarsdottir,Thorarinn Blondal,Aslaug Jonasdottir,Abalbjorg Jonasdottir,Asgeir Sigurdsson,Adam Baker,Arnar Palsson,Gisli Masson,Daniel F. Gudbjartsson,Kristinn P. Magnusson,Karl Andersen,Allan I. Levey,Valgerdur M Backman,Sigurborg Matthiasdottir,Thorbjorg Jonsdottir,Stefan T Palsson,Helga Einarsdottir,Steinunn Gunnarsdottir,Arnaldur Gylfason,Viola Vaccarino,W. Craig Hooper,Muredach P. Reilly,Christopher B. Granger,Harland Austin,Daniel J. Rader,Svati H. Shah,Arshed A. Quyyumi,Jeffrey R. Gulcher,Gudmundur Thorgeirsson,Unnur Thorsteinsdottir,Augustine Kong,Kari Stefansson +34 more
TL;DR: An association between myocardial infarction and a common sequence variant on chromosome 9p21 was associated with the disease with high significance and approximately 21% of individuals in the population are homozygous for this variant, and their estimated risk of suffering myocardious disease is 1.64 times as great as that of noncarriers.