Linked Life Data

21448764

Source:http://linkedlifedata.com/resource/pubmed/id/21448764

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2011-7-6
pubmed:abstractText
We are reporting what we believe to be the first published case of patient initiated direct to consumer (DTC) genetic testing to test for the presence of a known familial mutation. Our client in this case is from a known MSH2 family; both his/her parent and associated grandparent have previously tested positive for the known familial MSH2 mutation. Using 23andme's "family inheritance genome-wide comparison" option we were able to determine that our client most likely inherited the known familial MSH2 mutation without pursuing single site genetic testing. Our client pursued DTC genetic testing instead of single site genetic testing due to the fear of genetic discrimination. This case shows that patients are still fearful of genetic discrimination, despite the passage of the Genetic Information Nondiscrimination Act (GINA), and that DTC genetic testing may be useful despite the overall negative feeling towards this type of testing in the genetic counseling community.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1573-3599
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
327-9
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Self diagnosis of Lynch syndrome using direct to consumer genetic testing: a case study.
pubmed:affiliation
Medical Genetics, Mayo Clinic, Jacksonville, FL 32224, USA. Roberts.Maegan@mayo.edu
pubmed:publicationType
Journal Article