Most consumers don’t know personal genetic tests exist

see Public awareness and use of direct-to-consumer personal genomic tests from four state population-based surveys, and implications for clinical and public health practice

The general public seems to have little awareness of, and even less appetite for, personal genomic testing, according to the first multistate survey assessing knowledge and use of direct-to-consumer (DTC) genetic tests. Public health officials in Connecticut, Michigan, Oregon, and Utah added questions about DTC testing to the 2009 Behavioral Risk Factor Surveillance System (BRFSS), a random telephone survey conducted to assess health-care access and use. In this issue of Genetics in Medicine, they report that, despite the availability of such tests in 48 states, awareness of DTC genetic testing remains low, ranging from 16% in Michigan to 29% in Oregon. Perhaps more importantly, the survey reveals that use of such tests, which private companies keep proprietary, is exceedingly low—well under 1% in all four states. Those who said they were aware of DTC genetic tests tended to be older, white, educated, and affluent. Most said that they heard of the tests on television or read about them in a newspaper or magazine. Encouragingly, of those who had availed themselves of DTC tests, about half had voluntarily shared results with their health-care providers. This differs from the findings of previous surveys that only about one in four shared results with his or her physician. Overall, the survey shows a significant opportunity for public education about DTC genetic tests, as the number and availability of these tests are only expected to increase in coming years. —Karyn Hede, News Editor

Long-term follow-up of adults with 22q11.2 deletion syndrome reveals variability in life skills

see Functional outcomes of adults with 22q11.2 deletion syndrome

As treatment for inherited disorders improves and more affected individuals survive to adulthood, information about effective interventions to improve quality of life for adults becomes imperative. Anne Bassett and colleagues from the Clinical Genetics Research Program at the University of Toronto describe the findings of long-term follow-up of 100 individuals diagnosed with 22q11.2 deletion syndrome, the most common microdeletion syndrome in humans. Occurring in about 1 in 4,000 live births, the syndrome encompasses cardiac, cognitive, and psychiatric disorders, with a wide variability in severity. Among members of the study group, whose average age was 23, most had difficulty with daily living and communication skills, but a significant subgroup (24 individuals) were functioning relatively normally. They were students or employed and living independently. This group tended to have higher IQ scores, and, significantly, only two had been diagnosed with a psychotic illness. A small group of five with lower IQ—four women and one man—exceeded predicted expectations. All lived in a stable home with relatives or a spouse, and four were being effectively treated for a mood disorder. For health-care providers, these findings may help in providing patients and their families with reasonable expectations as well as in setting long-term goals. The results also point to the importance of support and services for adults with 22q11.2 deletion syndrome to build daily-living skills. —Karyn Hede, News Editor