Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 7, 420
eCollection

A Key Role for the Genetic Counsellor in the Genomics Era

Affiliations

A Key Role for the Genetic Counsellor in the Genomics Era

Flora M Joseph. F1000Res.

Abstract

New genetic testing technologies such as microarrays and whole exome sequencing mean the diagnostic potential for a child with a development disorder is greatly increased over traditional testing techniques. With this increased potential comes increased expectations from families and professionals about the answers a diagnosis will provide. However, limitations remain and a proportion of individuals will continue to remain undiagnosed. In addition, some individuals will receive novel or very rare diagnoses about which very little is known in terms of prognosis and effective treatments. In this paper, I present an argument for why these families would benefit from additional Genetic Counsellor support and how Clinical Genetics services in the UK could provide this support. I acknowledge that resources are limited, but as demands on services increase and interactions with families become shorter, I argue that this kind of service should be prioritised, for the benefit of these families.

Keywords: developmental disabilities; genetic counseling; genetic services; genetic testing; intellectual disability; psychological adaptation; psychosocial support systems; uncertainty.

Conflict of interest statement

No competing interests were disclosed.

Similar articles

See all similar articles

References

    1. Association of Genetic Nurses and Counsellors (AGNC): Train to be a Genetic Counsellor in the UK.2018; Accessed 13th August 2018. Reference Source
    1. Austin J, Semaka A, Hadjipavlou G: Conceptualizing genetic counseling as psychotherapy in the era of genomic medicine. J Genet Couns. 2014;23(6):903–909. 10.1007/s10897-014-9728-1 - DOI - PMC - PubMed
    1. Barnett D, Clements M, Kaplan-Estrin M, et al. : Building new dreams – Supporting parents’ adaptation to their child with special needs. Infants Young Child. 2003;16(3):184–200. 10.1097/00001163-200307000-00002 - DOI
    1. Biesecker BB: Goals of Genetic Counseling. Clin Genet. 2001;60(5):323–330. 10.1034/j.1399-0004.2001.600501.x - DOI - PubMed
    1. Catanzaro SJ, Mearns J: Measuring generalized expectancies for negative mood regulation: initial scale development and implications. J Pers Assess. 1990;54(3–4):546–63. 10.1080/00223891.1990.9674019 - DOI - PubMed

Grant support

The author(s) declared that no grants were involved in supporting this work.
Feedback