{"id":46296,"date":"2019-12-17T12:33:18","date_gmt":"2019-12-17T11:33:18","guid":{"rendered":"https:\/\/blogs.bmj.com\/bmj\/?p=46296"},"modified":"2020-01-13T09:41:57","modified_gmt":"2020-01-13T08:41:57","slug":"rolling-out-genomic-screening","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/bmj\/2019\/12\/17\/rolling-out-genomic-screening\/","title":{"rendered":"Rolling out genomic screening\u00a0\u00a0"},"content":{"rendered":"

Experience in Canada illustrates<\/span> some of t<\/span>he challenges of introducing genomic screening into routine clinical care<\/span><\/p>\n

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\"\"<\/a>By 2025, it is estimated that up to two billion people around the world could have their genomes sequenced. This underscores the importance of wide patient and public involvement in developing screening policies and defining the research agenda. [1-4]<\/span>\u00a0<\/span><\/p>\n

In Newfoundland and Labrador, Canada, gene sequencing tests are usually ordered by medical geneticists via the Provincial Medical Genetics Program (PMGP) and samples sent off site for testing. In 2018, however, funding for a gene sequencer in the Province spurred a research team to set up a pilot study “the e-genomics project” to explore how sequencing results could be integrated into routine clinical care. <\/span>For the pilot project, whole exome data of patients who had already undergone genomic screening in the context of investigating familial cancer or for other indications would be retrieved and stored locally;<\/span> a key aim being to identify other clinically “significant” genetic variants, including pharmacogenomic variants. Results would be stored in the Province\u2019s electronic medical record and report cards generated for clinicians to use at the point of care, providing advice on how the results might inform a change in care (e.g. a change in drug therapy).\u00a0<\/span><\/p>\n

Holly Etchegary: The researcher’s perspective<\/b><\/p>\n

As an advocate of patient oriented research, I felt that patients and the public should inform the pilot project and the research agenda linked to it.<\/span> Invitations to join a public advisory body were sent out in early 2018 to community groups, health authority networks, and provincial organizations; we also put out calls on television and local radio. We envisaged people would stay on the council for a\u00a0year, but have since extended it. Four men and eight women ranging in age from 24 to 65+ and residing in all four health regions of the province were selected for the council; three have a genetic condition in their families (Lynch syndrome and neurological disorders). Between June 2018 – March 2019, we held two teleconferences\u00a0 with council members and two in-person meetings (for which travel expenses were reimbursed.) The work of the council for the pilot e-genomics project was agreed as follows:\u00a0<\/span><\/p>\n