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PHG: UK 100K Genomes Project Should Return 'Actionable' Findings

NEW YORK (GenomeWeb News) – The Public Health Genomics Foundation wants the UK government to consider how it will deal with the incidental genetic findings it discovers during the course of its massive human genome sequencing project.

The UK's National Health Service is heading a multisite, national effort to conduct full genome sequences of 100,000 citizens with cancer and rare and inherited diseases, and PHG Foundation expects that the partners will need a policy in place for whether they will or will not return information on disease-linked genetic variants to the donors.

Broadly, PHG wants the NHS to develop a strong consent policy and to return these results in cases when they are clinically actionable.

It will be important for the 100,000 Genome Project (100kGP) partners to make sure that participants know that there are differences between the use of samples and genome sequencing for clinical and for research purposes, PHG said in a report Tuesday.

The foundation also wants the 100kGP partners to decide which pertinent or incidental findings that may come from the sequencing are likely to have an impact on the individual's physical or psychological health. Specifically, PHG urges that the project gain explicit informed consent for both the clinical and research elements, and recognizes that the scope of that consent will require focused consideration.

What PHG wants to see is for the 100kGP to set in place a policy under which it will only disclose research findings that are considered to be scientifically significant, have been assessed to be clinically significant, are severely or moderately life threatening, and are clinically actionable.

Those terms could include a wide range of genes and variants, and they may need to be determined at the individual research project level, according to PHG.

The group wants the consent process to include descriptions of what types of findings will be disclosed, and what may not, and the rationale for the differences.

PHG also has recommended that the 100kGP participants be allowed to opt out of disclosure, although that option could be overruled in certain circumstances, and this should happen when they give their consent.