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Review
. 2018 Jun 1;126(1):27-36.
doi: 10.1093/bmb/ldy008.

Genetic counselling in the era of genomic medicine

Christine Patch  1   2 , Anna Middleton  3   4
Affiliations
Review

Genetic counselling in the era of genomic medicine

Christine Patch et al. Br Med Bull. .

Abstract

Background: Genomic technology can now deliver cost effective, targeted diagnosis and treatment for patients. Genetic counselling is a communication process empowering patients and families to make autonomous decisions and effectively use new genetic information. The skills of genetic counselling and expertise of genetic counsellors are integral to the effective implementation of genomic medicine.

Sources of data: Original papers, reviews, guidelines, policy papers and web-resources.

Areas of agreement: An international consensus on the definition of genetic counselling. Genetic counselling is necessary for implementation of genomic medicine.

Areas of controversy: Models of genetic counselling.

Growing points: Genomic medicine is a growing and strategic priority for many health care systems. Genetic counselling is part of this.

Areas timely for developing research: An evidence base is necessary, incorporating implementation and outcome research, to enable health care systems, practitioners, patients and families to maximize the utility (medically and psychologically) of the new genomic possibilities.

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Figures

Fig. 1
Fig. 1
Previous and future care pathways involving genetic counselling.
See this image and copyright information in PMC

References

    1. Davies SC. Annual Report of the Chief Medical Officer 2016, Generation Genome. London: Department of Health, 2017.
    1. Caulfield M. 100000 Genome Project. Annual Report of the Chief Medical Officer 2016, Generation Genome. London: Department of Health, 2017.
    1. Green ED, Guyer MS. National Human Genome Research I. Charting a course for genomic medicine from base pairs to bedside. Nature 2011;470:204–13. - PubMed
    1. Green RC, Goddard KAB, Jarvik GP, et al. . Clinical sequencing exploratory research consortium: accelerating evidence-based practice of genomic medicine. Am J Hum Genet 2017;98:1051–66. - PMC - PubMed
    1. Middleton A, Marks P, Bruce A, et al. . The role of genetic counsellors in genomic healthcare in the United Kingdom: a statement by the Association of Genetic Nurses and Counsellors. Eur J Hum Genet 2017;25:659–61. - PMC - PubMed

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