Publications by authors named "Janne Bayer Andersen"

4 Publications

  • Page 1 of 1

Direct to consumer genetic testing in Denmark-public knowledge, use, and attitudes.

Eur J Hum Genet 2021 Mar 1. Epub 2021 Mar 1.

Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.

Direct to consumer genetic testing (DTC-GT) is offered by commercial companies, but the use in the general population has only been sparsely investigated. A questionnaire was sent to 2013 representative Danish citizens asking about their awareness and use of DTC-GT. Individuals who had undergone a genetic test were interviewed to determine if the results had been understood correctly. A pilot study with 2469 questionnaires was performed before this study. In total, 45.4% of the individuals (n = 913/2013) had knowledge about DTC-GT and 2.5% (n = (18 + 5)/913) previously had a genetic test by a private company and 5.8% through the public health care system (n = (48 + 5)/913). Curiosity about own genetic information was the most frequent motivation (40.9%, n = 9/22) as well as knowledge of ancestry (36.4%, n = 8/22) and advice about lifestyle, exercise, or diet (36.4%, n = 8/22). Test of own disease risk was given as a reason in 27.3% (n = 6/22) and seeking possible explanation of specific symptoms in 13.6% (n = 3/22). 50% (n = 11/22) answered that they had become concerned after the test, and 17.4% (n = 4/23) had consulted their GP. Interviews in a subset of respondents from the pilot study revealed problems with understanding the results. One problem was how to interpret the genetic test results with respect to individual risk for a disease. For example, the difference between disease causing genetic variants in monogenetic diseases versus statistical risks by SNPs in multifactorial diseases was not understood by the respondents.
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http://dx.doi.org/10.1038/s41431-021-00810-3DOI Listing
March 2021

Prostatic cystadenoma. A case-report illustrating diagnosis and surgical management of an unusual condition.

Scand J Urol 2021 Feb 28;55(1):83-85. Epub 2020 Dec 28.

Department of Urology, Herlev Hospital, University of Copenhagen, Copenhagen, Denmark.

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http://dx.doi.org/10.1080/21681805.2020.1864465DOI Listing
February 2021

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.

Hum Genet 2020 May 19;139(5):575-592. Epub 2020 Mar 19.

Department of Pediatrics, Amsterdam UMC, University of Amsterdam, Meibergdreef 9, 1105AZ, Amsterdam, The Netherlands.

RAD21 encodes a key component of the cohesin complex, and variants in RAD21 have been associated with Cornelia de Lange Syndrome (CdLS). Limited information on phenotypes attributable to RAD21 variants and genotype-phenotype relationships is currently published. We gathered a series of 49 individuals from 33 families with RAD21 alterations [24 different intragenic sequence variants (2 recurrent), 7 unique microdeletions], including 24 hitherto unpublished cases. We evaluated consequences of 12 intragenic variants by protein modelling and molecular dynamic studies. Full clinical information was available for 29 individuals. Their phenotype is an attenuated CdLS phenotype compared to that caused by variants in NIPBL or SMC1A for facial morphology, limb anomalies, and especially for cognition and behavior. In the 20 individuals with limited clinical information, additional phenotypes include Mungan syndrome (in patients with biallelic variants) and holoprosencephaly, with or without CdLS characteristics. We describe several additional cases with phenotypes including sclerocornea, in which involvement of the RAD21 variant is uncertain. Variants were frequently familial, and genotype-phenotype analyses demonstrated striking interfamilial and intrafamilial variability. Careful phenotyping is essential in interpreting consequences of RAD21 variants, and protein modeling and dynamics can be helpful in determining pathogenicity. The current study should be helpful when counseling families with a RAD21 variation.
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http://dx.doi.org/10.1007/s00439-020-02138-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7170815PMC
May 2020

[Presymptomatic genetic testing in minors should only be performed when intervention is possible].

Ugeskr Laeger 2014 Dec;176(52)

Klinisk Genetisk Klinik, Kennedy -Centret, Gamle Landevej 7, 2600 Glostrup.

Presymptomatic genetic testing in minors is subject to debate. We reviewed guidelines on the subject from four large medical genetics societies. A general consensus exists regarding presymptomatic testing with the main justification for such testing being the direct benefit to the child through medical intervention or preventive measures. The child's best interest is central, but there is disagreement as to whether psychosocial and familial aspects should be included in this concept. Empirical evidence is lacking. We recommend increased awareness regarding the complexity of this issue.
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December 2014