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Pestoff, Rebecka
Publications (3 of 3) Show all publications
Pestoff, R., Ingvoldstad, C. & Skirton, H. (2016). Genetic counsellors in Sweden: their role and added value in the clinical setting.. European Journal of Human Genetics, 24(3), 350-355
Open this publication in new window or tab >>Genetic counsellors in Sweden: their role and added value in the clinical setting.
2016 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 24, no 3, p. 350-355Article in journal (Refereed) Published
Abstract [en]

Genetic testing is becoming more commonplace in general and specialist health care and should always be accompanied by genetic counselling, according to Swedish law. Genetic counsellors are members of the multi-disciplinary team providing genetic counselling. This study examined the role and added value of genetic counsellors in Sweden, using a cross-sectional on-line survey. The findings showed that the genetic counsellors added value in the clinical setting by acting as the 'spider-in-the-web' regarding case management, having a more holistic, ethical and psychological perspective, being able to offer continuous support and build a relationship with the patient, and being more accessible than medical geneticists. The main difference between a genetic counsellor and medical geneticist was that the doctor had the main medical responsibility. Thus genetic counsellors in Sweden contribute substantially to the care of patients in the clinical genetic setting.

Place, publisher, year, edition, pages
Nature Publishing Group, 2016
National Category
Health Care Service and Management, Health Policy and Services and Health Economy Social and Clinical Pharmacy Nursing Ethics Other Medical Sciences not elsewhere specified
Identifiers
urn:nbn:se:liu:diva-125896 (URN)10.1038/ejhg.2015.110 (DOI)000370469500011 ()26014428 (PubMedID)
Note

Funding agencies:  Department of Clinical Pathology and Clinical Genetics; Department of Clinical and Experimental Medicine, Linkoping University, Linkoping, Sweden

Available from: 2016-03-07 Created: 2016-03-07 Last updated: 2018-01-10Bibliographically approved
Johansson, J., Sahin, C., Pestoff, R., Ignatova, S., Forsberg, P., Edsjö, A., . . . Stenmark Askmalm, M. (2015). A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia.. Case Reports in Gastrointestinal Medicine, 2015, 1-5, Article ID 140616.
Open this publication in new window or tab >>A Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia.
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2015 (English)In: Case Reports in Gastrointestinal Medicine, ISSN 2090-6528, E-ISSN 2090-6536, Vol. 2015, p. 1-5, article id 140616Article in journal (Refereed) Published
Abstract [en]

Juvenile polyposis syndrome (JPS) is a rare genetic disorder characterized by juvenile polyps of the gastrointestinal tract. We present a new pathogenic mutation of the SMAD4 gene and illustrate the need for a multidisciplinary health care approach to facilitate the correct diagnosis. The patient, a 47-year-old Caucasian woman, was diagnosed with anaemia at the age of 12. During the following 30 years, she developed numerous gastrointestinal polyps. The patient underwent several operations, and suffered chronic abdominal pain, malnutrition, and multiple infections. Screening of the SMAD4 gene revealed a novel, disease-causing mutation. In 2012, the patient suffered hypoalbuminemia and a large polyp in the small bowel was found. Gamma globulin was given but the patient responded with fever and influenza-like symptoms and refused more treatment. The patient underwent surgery in 2014 and made an uneventful recovery. At follow-up two months later albumin was 38 g/L and IgG was 6.9 g/L. Accurate diagnosis is essential for medical care. For patients with complex symptomatology, often with rare diseases, this is best provided by multidisciplinary teams including representatives from clinical genetics. Patients with a SMAD4 mutation should be followed up both for JPS and haemorrhagic hereditary telangiectasia and may develop protein loosing enteropathy and immunodeficiency.

National Category
Gastroenterology and Hepatology
Identifiers
urn:nbn:se:liu:diva-115933 (URN)10.1155/2015/140616 (DOI)25705527 (PubMedID)
Available from: 2015-03-24 Created: 2015-03-24 Last updated: 2017-12-04
Skirton, H., Barnoy, S., Erdem, Y., Ingvoldstad, C., Pestoff, R., Teksen, F. & Williams, J. (2012). Suggested components of the curriculum for nurses and midwives to enable them to develop essential knowledge and skills in genetics. Journal of Community Genetics, 3(4), 323-329
Open this publication in new window or tab >>Suggested components of the curriculum for nurses and midwives to enable them to develop essential knowledge and skills in genetics
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2012 (English)In: Journal of Community Genetics, ISSN 1868-310X, Vol. 3, no 4, p. 323-329Article in journal (Refereed) Published
Abstract [en]

Nurses and midwives need to develop specific knowledge and skills in genetics to enable them to offer appropriate healthcare in a range of non-specialist settings. Studies on the topic indicate that while nurses acknowledged the importance of genetics knowledge to their work, both their knowledge and confidence in using such information are poor. Despite the existence of competence frameworks, it appears that educators have struggled with the need to integrate genetics into nursing and midwifery curricula. An expert workshop on genetics education was held to determine the essential components of genetics knowledge and skills that should be incorporated into the pre-registration nursing curriculum in European countries. In this paper we present the essential topics for nurse and midwife pre-registration education and suggest ways in which genetics might be incorporated into the nursing and midwifery curriculum. © Springer-Verlag 2012.

Place, publisher, year, edition, pages
Springer Verlag (Germany), 2012
National Category
Medical and Health Sciences
Identifiers
urn:nbn:se:liu:diva-87772 (URN)10.1007/s12687-012-0098-9 (DOI)
Available from: 2013-01-24 Created: 2013-01-23 Last updated: 2013-01-24
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