Key Points
• Some aspects of genetic health care (non-directive counselling, risk assessment and practical and emotional adjustment to the disorder) are unchanged by the explosion in genetic knowledge.
• Three complex disorders: haemochromatosis, neural tube defects, schizophrenia, and their genetic counselling implications are discussed.
• The role of genetic services in genetic susceptibility testing is less clear.
• Accurate diagnosis, the ability to communicate the risk and precise risk estimation will remain important.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Adams P, Brissot P, Powell LW. EASL International Consensus Conference on Haemochromatosis,: Part II. Expert Document. J Hepatol 2000; 33: 487–496.
Austin J. Schizophrenia: an update and review. J Genet Couns 2005; 14: 329–340.
Austin JC, Peay HL. Applications and limitations of empiric data in provision of recurrence risks for schizophrenia: a practical review for healthcare professionals providing clinical psychiatric genetics consultations. Clin Genet 2006; 70: 177–187.
Bryant J, Cooper K, Picot J, et al. A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations. J Med Genet 2008; 45: 513–518.
Burke WM, Zimmern RLF, Kroese MM. Defining purpose: a key step in genetic test evaluation. Genet Med 2007; 9: 675–681.
De MP, Merello E, Mascelli S, et al. Current perspectives on the genetic causes of neural tube defects. Neurogenetics 2006; 7: 201–221.
Eurogentest (2009) Recommendations for genetic counselling related to genetic testing. Available at: http://www.eurogentest.org/professionals/documents/info/public/unit3/final_recommendations_genetic_counselling.xhtml. Accessed 2 March 2009.
Goddard KA, Robitaille J, Dowling NF, et al. Health-related direct-to-consumer genetic tests: a public health assessment and analysis of practices related to Internet-based tests for risk of thrombosis. Public Health Genomics 2009; 12: 92–104.
Harrison PJ, Weinberger DR. Schizophrenia genes, gene expression, and neuropathology: on the matter of their convergence.[erratum appears in Mol Psychiatry. 2005 Apr;10(4):420]. Mol Psychiatry 2005; 10: 40–68.
Human Genetics Commission (2008) More Genes Direct.
International Schizophrenia Consortium . Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature 2008; 455: 237–241.
Janssens AC, Gwinn M, Bradley LA, et al. A critical appraisal of the scientific basis of commercial genomic profiles used to assess health risks and personalize health interventions. Am J Human Genet 2008; 82: 593–599.
Khoury MJ, Berg A, Coates R, et al. The Evidence Dilemma In Genomic Medicine. Health Aff 2008; 27: 1600–1611.
Khoury MJ, Gwinn M, Yoon PW, et al. The continuum of translation research in genomic medicine: how can we accelerate the appropriate integration of human genome discoveries into health care and disease prevention? Genet Med 2007; 9: 665–674.
Lyus VL. The importance of genetic counseling for individuals with schizophrenia and their relatives: potential clients’ opinions and experiences. Am J Med Genet B 2007; 144: 1014–1021.
Melzer D, Hogarth S, Liddell K, et al. Genetic tests for common diseases: new insights, old concerns. BMJ 2008; 336: 590–593.
Padmanabhan R. Etiology, pathogenesis and prevention of neural tube defects. Congenital Anomalies 2006; 46: 55–67.
Skirton H, Patch C, Williams J. Applied Genetics in Health Care. Oxford: Taylor & Francis Group, 2005.
Waalen J, Nordestgaard BG, Beutler E. The penetrance of hereditary hemochromatosis. Bailliere’s Best Pract Clin Haematol 2005; 18: 203–220.
Wood MJ, Skoien R, Powell LW. The global burden of iron overload. Hepatol Int 2009; 3: 434–444.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2010 Springer Science+Business Media B.V.
About this chapter
Cite this chapter
Patch, C. (2010). Genetic Counselling in Disorders of Low Penetrance. In: Kristoffersson, U., Schmidtke, J., Cassiman, J. (eds) Quality Issues in Clinical Genetic Services. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-3919-4_38
Download citation
DOI: https://doi.org/10.1007/978-90-481-3919-4_38
Published:
Publisher Name: Springer, Dordrecht
Print ISBN: 978-90-481-3918-7
Online ISBN: 978-90-481-3919-4
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)