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Communication of Genetic Information by Other Health Professionals: The Role of the Genetic Counsellor in Specialist Clinics
Author(s) -
O'Shea Rosie,
Murphy Anne Marie,
Treacy Eileen,
Lynch Sally Ann,
Thirlaway Kathryn,
Lambert Debby
Publication year - 2011
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-010-9337-6
Subject(s) - galactosemia , genetic counseling , ethnic group , medicine , family medicine , specialty , public health , genetic testing , human genetics , health professionals , disease , health care , nursing , genetics , pathology , economics , economic growth , biochemistry , sociology , anthropology , gene , galactose , biology , chemistry
Many children with chronic genetic diseases are followed by specialty clinics that provide genetic information as part of the care. Health services restrictions in the Republic of Ireland (ROI) can make the wait for an appointment with a genetic counsellor long. We examined whether genetic information was being adequately understood when presented by medical, but non‐genetics staff to long term patients, using our national metabolic service as an example. The aim was to inform health professionals about the need or role of a genetic counsellor in a specialist setting. A questionnaire was used to assess knowledge among parents and patients affected by galactosaemia and Maple Syrup Urine Disease (MSUD). Twenty seven families with galactosemia and 10 with MSUD were interviewed in clinic. Comparative analysis showed significant differences in knowledge between parents of children with galactosemia and adult patients ( p = 0.001) and between ethnicities ( p > 0.05). While parents are well informed, the majority expressed a wish for more information about the condition and its transmission. Adult patients with galactosemia and parents from certain ethnic backgrounds could especially benefit from genetic counselling. This study highlights the need for a genetic counsellor in specialist clinics.