Universität zu Köln

Netzer, Christian, Velmans, Clara, Erger, Florian ORCID: 0000-0002-2768-1702 and Schreml, Julia (2021). Carrier testing for autosomal recessive disorders: a look at current practice in Germany. Med. Genet., 33 (1). S. 13 - 20. BERLIN: WALTER DE GRUYTER GMBH. ISSN 1863-5490

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Abstract

Counseling recurrence risks for monogenic disorders is one of the mainstays of human genetics. However, in practice, consultations concerning autosomal recessive disorders exceed the simple conveyance of a 25 % recurrence risk for future offspring. Medical geneticists should be aware of the multifaceted way in which autosomal recessive disorders can pose a diagnostic and counseling challenge in their daily lives and of the pitfalls they might encounter. Although the intentional or incidental detection of carrier states for autosomal recessive diseases happens more and more frequently, our current practice when clarifying their associated reproductive risks remains unsystematic and often subjectively guided. We question whether the approach of focusing on small recurrence risks for a single familial disease with extensive single-gene tests in the partner of a known carrier truly addresses the counseling needs of a couple seeking precon-ceptional genetic advice. Different perspectives between patients and medical practitioners (or between different medical practitioners) on acceptable risks or the extent to which such risks must be minimized raise the question of whether existing professional guidelines need to be clarified.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Netzer, Christian UNSPECIFIED UNSPECIFIED UNSPECIFIED Velmans, Clara UNSPECIFIED UNSPECIFIED UNSPECIFIED Erger, Florian UNSPECIFIED orcid.org/0000-0002-2768-1702 UNSPECIFIED Schreml, Julia UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-569316
DOI:	10.1515/medgen-2021-2052
Journal or Publication Title:	Med. Genet.
Volume:	33
Number:	1
Page Range:	S. 13 - 20
Date:	2021
Publisher:	WALTER DE GRUYTER GMBH
Place of Publication:	BERLIN
ISSN:	1863-5490
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language GENETIC-COUNSELORS; MEDICAL-GENETICS; AMERICAN-COLLEGE; GENOMICS Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/56931