UK Academy Offers Recommendations to ‘Fulfill Promise’ of GWAS

By a GenomeWeb staff reporter

July 09, 2009

NEW YORK (GenomeWeb News) – The UK’s Academy of Medical Sciences is calling for greater investment into genome-wide association studies and has offered several recommendations for ways to ensure that GWAS findings will ultimately benefit patients.

In a report released yesterday, AMS noted that “despite the many successes and exciting potential of GWA studies, there is considerable scope to further capitalize on the opportunities and secure real benefits for healthcare,” though it adds that “fulfilling this promise will take time.”

AMS is a network of biomedical scientists from commercial and academic organizations in the UK. The report’s recommendations are drawn from an October 2008 meeting on GWAS that was supported by GlaxoSmithKline.

A key challenge for GWAS, the report notes, is “moving from a statistical indication that a gene variant or region of
DNA is involved in a disease, to locating and identifying causal variants and the associated biological pathways.” This challenge “can only be met by greater integration between three historically distinct approaches to disease causality: genetic mapping, epidemiology and studies of pathophysiological mechanisms.”

In order to move knowledge gained from GWAS closer to medical use, AMS said, there is a need to identify additional factors that contribute to genetic variance, including the role of SNPs, CNVs, and epigenetics.

This will require the collection of samples from diverse populations for multiple diseases that have “some commonality of clinical datasets, patient consent and data access arrangements,” the group added.

AMS also sees a case for integrated epigenetic GWA studies that would combine sequence-based quantitative genetics and epigenome dynamics. “Crucial to this goal” will be initiatives that develop high-resolution reference epigenome maps such as the Alliance for the Human Epigenome and Disease, the report said.

The group also noted that researchers must have access to high-quality data from prospective studies as well as access to population-based samples such as the UK Biobank and disease registries.

There should also be further investment in bioinformatics and statistical methods to interpret sequence data, and tools must be developed to assess gene-gene and gene-environment effects and clinical endpoints, AMS advised.

AMS also pointed to a need for studies of differences in gene expression using diverse tissue types, and it urged the development of improved in vivo and in vitro models for assessing human causal variants.

The aim is to begin to translate the “wave of genetic findings” on common diseases into improved diagnostics, preventions, and treatments.

GWA studies also could contribute more to understanding genetic variation if their results were transferred to other populations, if re-sequencing studies were conducted to find rare variants, and if there were more cohort studies, AMS advised.

“Continued investment will be needed to translate new knowledge into benefits for patients and to ensure that the UK maintains a leading international position in this exciting area,” John Bell, president of the AMS, said in a statement.

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