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2 - Genetic testing, an informed choice

Published online by Cambridge University Press:  16 September 2009

By
Agnes Bankier  and
David Cram
Edited by
Loane Skene  and
Janna Thompson
Loane Skene
Affiliation:
University of Melbourne
Janna Thompson
Affiliation:
La Trobe University, Victoria
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Summary

Background

This chapter describes a range of genetic tests that are apparently available and how they offer choices to those affected. It explains some of the reasons for genetic testing and some ethical issues that have been raised concerning particular tests, especially in relation to the privacy and control of the information revealed.

Traditionally genetic counselling has aimed to be non-directive and to provide accurate information and an opportunity for discussion so that people can make informed choices for themselves. Decisions need to be based not only on scientific evidence and legal requirements but also on the personal values of the people concerned. In the context of prenatal diagnosis and predictive testing, decisions have life-long consequences for the individual and their families and need due consideration.

Gene testing is available to confirm a diagnosis in a person with symptoms of a condition and can clarify if a healthy relative or a fetus has inherited the gene in the family. Gene testing can thus provide information about the future health of the individual; this is called predictive testing. Carrier testing provides information about risk to offspring. There are screening tests, which are available to the population, for conditions of sufficient frequency that are a low known risk to individuals but can identify those who are in fact at high risk.

Prenatal testing and screening have created options for parents to find out about the health of the baby before it is born.

Type
Chapter
Information
The Sorting Society
The Ethics of Genetic Screening and Therapy
 , pp. 7 - 20
Publisher: Cambridge University Press
Print publication year: 2008

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References

Cioni, R., Bussani, C., Scarselli, B.et al., ‘Fetal cells in cervical mucus in the first trimester of pregnancy’ (2003) 23 Prenatal Diagnosis168–71.CrossRefGoogle ScholarPubMed
Bulmer, J. N., Cioni, R., Bussani, C.et al., ‘HLA-G positive trophoblastic cells in transcervical samples and their isolation and analysis by laser microdissection and QF-PCR’ (2003) 23 Prenatal Diagnosis34–9;CrossRefGoogle ScholarPubMed
Katz-Jaffe, M.G., Mantzaris, D. and Cram, D. S., ‘DNA identification of fetal cells isolated from cervical mucus: potential for early non-invasive prenatal diagnosis’ (2005) 112 BJOG595–600.CrossRefGoogle ScholarPubMed
Mantzaris, D., Cram, D. S., Healy, C., Howlett, D. and Kovacs, G., ‘Preliminary report: correct diagnosis of sex in fetal cells isolated from cervical mucus during early pregnancy’ (2005) 45 Australian & New Zealand Journal of Obstetrics & Gynaecology529–32.CrossRefGoogle ScholarPubMed
Verlinsky, Y., Cohen, J., Munne, S.et al., ‘Over a decade of experience with preimplantation genetic diagnosis: a multicenter report’ (2004) 82 Fertility and Sterility292–4.CrossRefGoogle Scholar
Harper, J. C., Boelaert, K., Geraedts, J.et al., ‘ESHRE PGD Consortium data collection V: cycles from January to December 2002 with pregnancy follow-up to October 2003’ (2006) 21 Human Reproduction3–21.CrossRefGoogle ScholarPubMed
Thornhill, A. R., deDie-Smulders, C. E., Geraedts, J. P.et al., ‘ESHRE PGD Consortium ‘Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)’’ (2005) 20 Human Reproduction35–48CrossRefGoogle Scholar
,The Preimplantation Genetic Diagnosis International Society (PGDIS), ‘Guidelines for good practice in PGD’ (2004) 9(4) Reproductive Biomedicine Online430–4 (PGDIS (2004))CrossRefGoogle Scholar
Boer, K. A., Catt, J. W., Jansen, R. P., Leigh, D., McArthur, S., ‘Moving to blastocyst biopsy for pre-implantation genetic diagnosis and single embryo transfer at Sydney IVF’ (2004) 82(2) Fertility and Sterility295–8CrossRefGoogle Scholar
Kokkali, G., Vrettou, C., Traeger-Synodinos, J.et al., ‘Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of beta-thalassaemia major’ (2005) 20(7) Human Reproduction1855–9.CrossRefGoogle ScholarPubMed
Verlinsky, Y., Rechitsky, S., Verlinsky, O.et al., ‘Preimplantation diagnosis for P53 tumour suppressor gene mutations’ (2001) 2(2) Reproductive Biomedicine Online102–5.CrossRefGoogle ScholarPubMed
Verlinsky, Y., Rechitsky, S., Verlinsky, O., et al., ‘Preimplantation diagnosis for early-onset Alzheimer disease caused by V717L mutation’ (2002) 287 JAMA1018–21.CrossRefGoogle ScholarPubMed
Allen, C. and Reardon, W., ‘Assisted reproduction technology and defects of genomic imprinting’ (2005) 112 BJOG1589–94.CrossRefGoogle ScholarPubMed

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