TY - JOUR
T1 - 'Genomic counseling'? Genetic counseling in the genomic era
AU - Clarke, Angus
AU - Thirlaway, Katie
PY - 2011/1/31
Y1 - 2011/1/31
N2 - Genetic counseling can be seen as the health professional role concerned with the impact of genetic disease and genetic information on individuals and families. It has been predominantly concerned with the human problems arising in the context of single gene disorders, chromosome rearrangements and malformation, including syndromes of neurodevelopmental disturbance and dysmorphic physical features. These are the core conditions dealt with in genetic counseling practice on both sides of the North Atlantic, although the scope of genetic counseling does vary between countries so that, for example, North American genetic counselors are often heavily engaged in the offer of routine antenatal screening to pregnant women, whereas this is not standard practice in Europe. As genomic analysis enters clinical medicine [1, 2], it is timely to reflect on the impact that this will have on genetic counseling practice [3]. Instead of merely single gene test results, will genetic counselors undertake risk counseling for the common, complex disorders on the basis of pan-genome test results such as genome-wide single nucleotide polymorphism (SNP) panels, array comparative genome hybridization studies of copy number variants, exome sequencing or full genome sequence? If they do, what impact will this have on the prevention and treatment of the chronic diseases that seem likely to be the major health problems of the 21st century?
AB - Genetic counseling can be seen as the health professional role concerned with the impact of genetic disease and genetic information on individuals and families. It has been predominantly concerned with the human problems arising in the context of single gene disorders, chromosome rearrangements and malformation, including syndromes of neurodevelopmental disturbance and dysmorphic physical features. These are the core conditions dealt with in genetic counseling practice on both sides of the North Atlantic, although the scope of genetic counseling does vary between countries so that, for example, North American genetic counselors are often heavily engaged in the offer of routine antenatal screening to pregnant women, whereas this is not standard practice in Europe. As genomic analysis enters clinical medicine [1, 2], it is timely to reflect on the impact that this will have on genetic counseling practice [3]. Instead of merely single gene test results, will genetic counselors undertake risk counseling for the common, complex disorders on the basis of pan-genome test results such as genome-wide single nucleotide polymorphism (SNP) panels, array comparative genome hybridization studies of copy number variants, exome sequencing or full genome sequence? If they do, what impact will this have on the prevention and treatment of the chronic diseases that seem likely to be the major health problems of the 21st century?
UR - http://www.scopus.com/inward/record.url?scp=84856621052&partnerID=8YFLogxK
U2 - 10.1186/gm221
DO - 10.1186/gm221
M3 - Comment/debate
AN - SCOPUS:84856621052
SN - 1756-994X
VL - 3
JO - Genome Medicine
JF - Genome Medicine
IS - 1
M1 - 7
ER -