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P4‐099: Molecular analysis of GOLPH2 gene SNPs in Alzheimer's disease
Author(s) -
Antúnez Carmen,
Boada Merçe,
Arrieta J. López,
Hernández Isabel,
Lage Pablo Martínez,
Mauleón A.,
RosendeRoca R.,
Echavarri C.,
Alegret M.,
RamírezLorca R.,
Moreno C.,
Morón F.J.,
Marín Juan,
Tárraga Luis,
Real L.M.,
GonzálezPérez A.,
Galan J.J.,
Ruiz Agustin
Publication year - 2009
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2009.04.868
Subject(s) - apolipoprotein e , genetic association , single nucleotide polymorphism , genotype , population , allele , genetics , disease , biology , genome wide association study , alzheimer's disease , gene , medicine , environmental health
to medical records received. The time required for this process was assessed. Results: Of the 275 records requested, 112 (41%) were obtained for family members of the 113 new patients seen. Requests were only made for relatives who reportedly had memory concerns and where records were deemed accessible. Of records obtained, the reported family history of memory concerns was supported in 69%, not supported in 13% and was ambiguous in 18%. Overall, in 5.5% of cases, genetic assessment for the patient was altered based on an inaccurately reported family history. During the study period, almost 500 hours (14% of a full time work-load) of the genetic counselor’s time were dedicated to the pursuit of medical records. Conclusions: Given the yield of records obtained (41%), the minimal percentage of patients for whom counseling differed after receipt of records (5.5%) and the significant amount of genetic counselor time invested in pursuing medical records (14%), UBCH-CARD’s record request procedures have been modified. Nevertheless, in a less structured setting than UBCH-CARD, medical records for reportedly affected family members may still be helpful in patient management.