Top

Published in:

01-03-2010

Predictive genetic testing in a young child: a case report

Authors: Gillian Crawford, Anneke Lucassen

Published in: Familial Cancer | Issue 1/2010

Excerpt

The many different professional guidelines [1] that give advice about genetic testing in children have been extensively reviewed in other papers in this issue of the journal. Here we present a case report illustrating how the issue of genetic testing in children continues to present challenges to clinical teams in practice. The identifying details of the case have been altered to preserve the anonymity of the family involved. …

Borry P, Stultiens L, Nys H, Cassiman JJ, Dierickx K (2006) Presymptomatic and predictive genetic testing in minors: a systematic review of guidelines and position papers. Clin Genet 70:374–381CrossRefPubMed

Vasen HFA (2000) Clinical diagnosis and management of hereditary colorectal cancer syndromes. J Clin Oncol 18(21s):81–92

Lynch HT, Smyrk T, McGinn T, Lanspa S, Cavalieri J, Lynch J, Slominski-Castor S, Cayouette MC, Priluck I, Luce MC (1995) Attenuated Familial Adenomatous Polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP. Cancer 76(12):2427–2433CrossRefPubMed

Clarke AJ, Gaff C (2008) Challenges in the genetic testing of children for familial cancers. Arch Dis Child 93(11):911–914CrossRefPubMed

Green JM, Hewison J, Bekker HL, Bryant LD, Cuckle HS (2004) Psychosocial aspects of genetic screening of pregnant women and newborns: a systematic review. Health Technol Assess 8:33

Locock L, Kai J (2008) Parents’ experiences of universal screening for haemoglobin disorders: implications for practice in a new genetics era. Br J Gen Pract 58:161–168CrossRefPubMed

McConkie-Rosell A, Spiridigliozzi GA (2004) ‘Family matters’: a conceptual framework for genetic testing in children. J Genet Couns 13(1):9–29CrossRefPubMed

Dalby S (1995) GIG response to the UK clinical genetics society report ‘the genetic testing of children’ June. British Medl J 32(6):490–491

Title: Predictive genetic testing in a young child: a case report
Authors: Gillian Crawford
Anneke Lucassen
Publication date: 01-03-2010
Publisher: Springer Netherlands
Published in: Familial Cancer / Issue 1/2010
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI: https://doi.org/10.1007/s10689-009-9277-1

Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Watch now

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras

Prof. Fabrice Barlesi

Developed by: Springer Medicine

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 1/2010

Genetic testing of children for familial cancers: a comparative legal perspective on consent, communication of information and confidentiality

Genetic testing in children and young people

Predictive testing for pre-malignancy as a prelude to adoption? An English case

A clinical perspective on ethical arguments around prenatal diagnosis and preimplantation genetic diagnosis for later onset inherited cancer predispositions

On the development of a decision support intervention for mothers undergoing BRCA1/2 cancer genetic testing regarding communicating test results to their children

Predictive genetic testing in children: where are we now? An overview and a UK perspective

Keynote webinar | Spotlight on antibody–drug conjugates in cancer