by M. Lassman, M.A., M.S., CGC
Genetic counselors from Pathway attended the American College of Medical Genetics (ACMG) meeting in Vancouver this past weekend. Below are some highlights from the conference.
A plenary session on hereditary connective tissue disorders included discussions of phenotypic and genotype correlations in connective tissue disorders, including the possible co-inheritance with cardiac problems that are not part of the disease spectrum, and how to sort this out.
A short course prior to the meeting entitled “Preparing for an Expanding Range of Adult Consultations” described the issues surrounding accurate diagnosing of adult patients with disease. Cases presented included Marfan syndrome, homocystinuria and vascular Ehlers-Danlos syndrome. The take-home message was that by old-fashioned clinical assessment, including pedigree information, testing for known biochemical analytes in associated pathways, and sometimes sequencing for known genes, more accurate diagnosis can be made when there are overlapping syndromes and/or associated conditions in a patient or family history. Cautions included the potential of missing a case when a SNP test did not include the causative gene variant.
Robert Green from Boston University announced the initiation of a study by the Impact of Personal Genomic Services consortium (IPeG) to understand individual response to personal genetic testing. The IPeG consortium, which includes Pathway Genomics and 23andme, will assess whether individuals make lifestyle changes in response to personal genetic testing, and also how well individuals understand their personal genetic test results.
The IPeG consortium, which includes Pathway Genomics and 23andme, will assess whether individuals make lifestyle changes in response to personal genetic testing, and also how well individuals understand their personal genetic test results.
The IPeG study is expected to add to the data generated from the Risk Evaluation and Education for Alzheimer’s Disease (REVEAL) study on reactions to genetic testing for Alzheimer’s disease. In the REVEAL study, those found to have high genetic risk for Alzheimer’s disease were found to have made some positive lifestyle changes, including increased exercise and changes to diet.