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Review
. 2010;12(1):61-8.
doi: 10.31887/DCNS.2010.12.1/ahelgason.

The past, present, and future of direct-to-consumer genetic tests

Agnar Helgason  1 , Kári Stefánsson
Affiliations
Review

The past, present, and future of direct-to-consumer genetic tests

Agnar Helgason et al. Dialogues Clin Neurosci. 2010.

Abstract
in English, Spanish, French

Technological advances in the field of human genetics have resulted in a wave of discoveries of common DNA sequence variants that are associated with a risk of common complex diseases, such as heart attack, that account for a substantial proportion of morbidity, mortality, and health care costs in most contemporary populations. The overall predictive power of these sequence variants can be considerable, due to the high incidence of these diseases and the sheer number of associations that have been discovered. Health care providers have been slow to utilize this knowledge for preventative medicine. However, several companies have taken on a translational role by offering genetic tests based on these discoveries direct to consumers. In this paper, we review the current state and future prospects of such genetic tests, as scientists involved both in the discovery of disease associations and the development of genetic tests.

Los avances tecnológicos en el campo de la genética humana han producido una ola de descubrimientos de variantes de la secuencia común del ADN que están asociadas con un riesgo de enfermedades comunes y complejas, como el ataque cardíaco, que dan cuenta de un porcentaje significativo de morbilidad, mortal idad y costos de salud en la mayoría de las poblaciones actuales. El poder predictor en conjunto de estas variantes de la secuencia puede ser considerable, debido a la alta incidencia de estas enfermedades y al reducido número de asociaciones que se han descubierto. Los proveedores de atención de salud han utilizado lentamente este conocimiento para la medicina preventiva. Sin embargo, algunas empresas han asumido un papel translacional al ofrecer pruebas genéticas basadas en estos descubrimientos dirigidas a los usuarios. En este artículo se revisa tanto el estado actual y las perspectivas futuras de tales pruebas genéticas, como a los científicos involucrados en el descubrimiento de las asociaciones de enfermedades y en el desarrollo de las pruebas genéticas.

Les avancées technologiques en génétique humaine ont permis une série de découvertes de variants fréquents de séquence d'ADN associés à un risque de maladies complexes courantes, comme la crise cardiaque, responsables d'une morbi-mortalité et de coûts liés à la santé très importants chez la plupart de nos contemporains. La puissance prédictive globale de ces variants génétiques peut être considérable en raison de la fréquence élevée de ces maladies et du seul nombre d'associations découvertes. Les acteurs du système de santé ont mis du temps à utiliser ces données en médecine préventive. Plusieurs laboratoires ont néanmoins accepté de servir d'intermédiaire en proposant directement au grand public des tests génétiques basés sur ces découvertes. En tant que scientifiques impliqués à la fois dans la découverte d'associations de maladies et dans le développement de tests génétiques, nous analysons dans cet article l'état actuel et le devenir de tels tests.

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Figures

Figure 1.
Figure 1.. The number of replicated sequence variants associated with diseases and medically relevant traits by publication year of first report in genome-wide association studies according to the Catalog of Genome-Wide Association Studies on October 20th 2009. Counts were obtained by counting unique variants reported as statistically significant (at the level of P< 1 .0 x 1 0-5) in more than one study or in at least two population samples from the same study. They represent a total of 1 1 08 replicated associations to sequence variants based on 1 32 diseases and medically relevant traits. Note that in some cases the Catalog of Genome-Wide Association Studies reports multiple correlated single-nucleotide polymorphisms (SNPs) from the same genomic region, and thus the numbers shown are likely to be overestimates. However, the 1 108 associated SNPs belong to 871 different genomic regions, and this latter number is likely to be an underestimate of the overall number of associations discovered This is because some regions are known to contain multiple independent associations to the same trait - for example, region 8q24 and prostate cancer. Also, not all bona fide disease-associated sequence variants are included in the catalog, for example several that have been reported for age-related macular degeneration.,
See this image and copyright information in PMC

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