Consistency of Direct-to-Consumer Genetic Testing Results Among Identical Twins - 02/01/20

Doi : 10.1016/j.amjmed.2019.04.052

Anne M. Huml, MD ^a,^b,^c,^{^⁎} , Catherine Sullivan, MS ^a, Maria Figueroa ^a, Karen Scott, MPA ^a, Ashwini R. Sehgal, MD ^a,^b,^d
^a Center for Reducing Health Disparities, Case Western Reserve University, Cleveland, Ohio
^b Division of Nephrology, Department of Medicine, MetroHealth Medical Center, Cleveland, Ohio
^c Glickman Urological and Kidney Institute, Cleveland Clinic, Cleveland, Ohio
^d Departments of Bioethics and Population and Quantitative Health Sciences, Case Western Reserve University Cleveland, Ohio

^⁎Requests for reprints should be addressed to Anne Huml, MD, MS, Center for Reducing Health Disparities, MetroHealth Medical Center, 2500 MetroHealth Dr., Rammelkamp R208A, Cleveland, OH 44109.Center for Reducing Health DisparitiesMetroHealth Medical Center2500 MetroHealth Dr., Rammelkamp R208AClevelandOH44109

Abstract

Background

The purpose of this study was to evaluate the consistency of 3 commonly used direct-to-consumer genetic testing kits. Genetic testing kits are widely marketed by several companies but the consistency of their results is unclear. Because identical twins share the same DNA, their genetic testing results should provide insight into test consistency.

Methods

Forty-two identical twins (21 pairs) provided samples for 3 testing companies. Outcomes were concordance of ancestry results when twin pairs were tested by the same company and the same participant was tested by different companies. Concordance of 8 self-reported traits with 23andMe genetic analyses were also examined.

Results

Concordance of ancestry results when twin pairs were tested by the same company was high, with mean percentage agreement ranging from 94.5% to 99.2%. Concordance of ancestry results when participants were tested by 2 different companies was lower, with mean percentage agreement ranging from 52.7% to 84.1%. Concordance of trait results was variable, ranging from 34.1% for deep sleep and detached earlobes to 90.2% for cleft chin.

Conclusion

The consistency of consumer genetic testing is high for ancestry results within companies but lower and more variable for ancestry results across companies and for specific traits. These results raise questions about the usefulness of such testing.

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Keywords : Genetic testing, Consistency, Identical twins

Plan

Participant Characteristics

Ancestry Testing

Trait Testing

Discussion

	Funding: National Institutes of Health grants U54MD002265 and K23DK101492 and Duncan Neuhauser Endowed Chair.
	Conflicts of Interest: None.
	Authorship: All authors had access to the data and a role in writing this manuscript.

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Vol 133 - N° 1

P. 143 - janvier 2020 Retour au numéro

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Consistency of Direct-to-Consumer Genetic Testing Results Among Identical Twins - 02/01/20

Abstract

Background

Methods

Results

Conclusion

Plan

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