Feedback of findings in genome-wide association studies

From The Embassy of Good Science

Feedback of findings in genome-wide association studies

What is this about?

Genome-wide association studies (GWAS) test the association between genomic variants and diseases or quantitative traits. In order to perform such analyses, researches are genotyping a large number of genomic variants for a large number of individuals. The information from a GWA scan is derived from DNA, which is a powerful personal identifier and can provide information not just on the individual, but also on the individual’s relatives, related groups and populations.

Why is this important?

The first sequencing of the whole human genome in 2003 cost roughly $2.7 billion. Advances in whole genome scanning technologies have enabled commercial companies to make genomic information available to the end consumer at competitive prices. Consumers can now have access to commercial genotyping of their genome from direct-to-consumer testing companies. According to NHGRI-funded genome-sequencing groups, the cost to generate a high-quality 'draft' whole human genome sequence in mid-2015 was just above $4,000; by late in 2015, that figure had fallen below $1,500.

This changing of landscape and technologies in which GWAS takes place is likely to affect the problem of reporting of findings. Is it possible that the participants in GWAS will expect a feedback similar to the information provided by consumer genetics companies?

For whom is this important?

What are the best practices?

Feeding back results from genomic studies is complicated because GWA is a research tool and is not designed for clinical diagnosis. In addition, most of the discoveries of whole genome methods identify genetic variants that explain very little in disease risk or quantitative trait variance. Feeding back raw data, would however, be completely misleading and not widely understandable. Providing participants with information about the general findings of research, such as publications based on the research, is an uncontroversial and welcome practice.

In Detail


Kaye J, Boddington P, de Vries J, Hawkins N, Melham K. Ethical implications of the use of whole genome methods in medical research. European journal of human genetics : EJHG. 2010;18(4):398-403. Epub 2009/11/06.

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