A couple recent reports about genetic testing have me thinking. In the U.S., the use of genetic testing is not widespread – but is increasing. The global genetic testing market is expected to reach approximately $60 billion by 2020 (see Global Genetic Testing Market – Industry Analysis And Market Forecast 2014-2020), and as many as 6.3 million Americans (2% of the population) have participated in genetic testing (see Growth of Molecular Diagnostics and Genetic Testing in the USA, 2008-2011).
What I didn’t realize until I read the June 2015 report from the Agency for Healthcare Research and Quality (AHRQ), Genetic Testing For Developmental Disabilities, Intellectual Disability, & Autism Spectrum Disorder, is the activity in genetic testing for developmental disabilities (DD). There are now 672 tests offered by 63 providers located in 29 states for diagnosing, screening, or assessing the risk of developmental disabilities (DDs). But there are only sixteen clinical guidelines – only seven developed in the past five years – for use of that available genetic testing information.
This raises the question of how this emerging body of personal genetic information will be used – and how it will affect consumers. To help answer that question, researchers have launched a research project that I find fascinating. The BabWhaySeq project is a randomized, controlled trial to measure the harms and benefits of newborn genomic sequencing (see Should Babies Have Their Genomes Sequenced?). Specifically, the trial will:
… enroll 240 healthy babies at Brigham and Women’s Hospital and 240 babies in the neonatal ICU at Boston Children’s Hospital. Half the babies in each group will be randomly assigned to have all their coding DNA sequenced and screened for 1,700 variants of genes that are associated with childhood-onset diseases. The other half will not have their DNA sequenced. The study will track the effects of the sequencing on the babies’ health care, its costs, their parents’ attitudes, and parent-child bonding.
Studies like this will be important to understanding the potential and the pitfalls of the future era of personalized medicine (see Personalized Medicine Gets A Push). And since 20% of heath factors that influence health status are considered “genetic” in origin, we can expect the commitment to developing more of these tools to increase (see Moving Beyond The 10% To Be A ‘High Value’ Organization). The challenge for clinical professionals and for the executive teams of health care organizations is to keep up with the practical applications of genetic testing technology. While the path may be unclear, it is likely that genetic information will become integrated into “best practice” services for many conditions – in no small part a result of the continued legislative and insurance developments that are regulating and reimbursing for these services. For more on the current state of genetic testing and personalized medicine, check out these resources:
- Tool For Diagnosing Dementia Approved By FDA
- FDA Clears 23andMe For Its Direct-To-Consumer Genetic Carrier Test
- Medicare To Cover Assurex Health Genetic Test
- Genetic Testing For Mental Health Conditions
- Corporate Medical Policy: Genetic Testing for Mental Health Conditions
And for more on technology strategy, don’t miss these great sessions at the 2015 OPEN MINDS Technology & Informatics Institute, October 27-28 in Washington D.C. – How To Make The Right Tech Choices: Adopting New Technologies To Increase Organizational Performance, and Everything An Executive Needs To Build A Successful Tech Strategy: Budgeting For & Implementing New Technologies.