Genomic counseling Genetic counseling in the genomic era.docVIP

Clarke and Thirlaway Genome Medicine 2011,3:7 /content/3/1/7 MUSINGS ‘Genomic counseling’? Genetic counseling in the genomic era Angus Clarke * and Katie Thirlaway 1 2 Genetic counseling can be seen as the health professional role concerned with the impact of genetic disease and although it will take time for the clinical research community to develop con?dence in the interpretation of genetic information on individuals and families. It has the accumulating data. At that point, whenever that been predominantly concerned with the human problems comes to pass, will genetic counselors embrace the arising in the context of single gene disorders, chromo- genomics of complex disease as well as the genetics of some rearrangements and malformation, including syndromes of neurodevelopmental disturbance and dys- morphic physical features. ese are the core conditions dealt with in genetic counseling practice on both sides of Mendelian disease? Our answer is a Yes and a No and a Maybe. Yes the North Atlantic, although the scope of genetic e principal clinical application of genome sequencing counseling does vary between countries so that, for has so far been the recognition of ‘new’ Mendelian loci example, North American genetic counselors are often heavily engaged in the o?er 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 re?ect on the impact that this will have on genetic counseling practice [3]. Instead of merely single gene test results, will genetic counselors undertake responsible either for previously unrecognized disorders or for additional loci contributing to known clinical entities. As the cost of genome sequencing a