Happy New Year! Our tradition here on the blog is to start the year by looking at the exciting developments we are seeing in genetic testing and genetic counselling. There’s a lot happening at the moment, but these are developments I have a close eye on.
Gene Editing Technologies like CRISPR
Gene editing technologies are of great interest to people who seek to treat and cure genetic diseases because they could be used to directly remove disease causing variations out of our DNA. The media has taken an interest too, so this received a lot of attention in 2015. There are issues that need to be worked out with this technology, including technical issues. For example, sometimes instead of just “fixing” the DNA you want to target, it also introduces new changes that you didn't intend which could cause problems. There are also ethical issues to consider. Should we use this technology to make changes in human DNA that could be passed on between generations?
For most disorders, gene editing technologies are unlikely to be used clinically in the near future. Their immediate potential may be for blood disorders, in part, because the blood system is easily accessible for introducing gene editing technology. In fact, the CRISPR gene editing technique is already been successfully used to treat leukemia for one young patient whose only other option was palliative care. Many speculate that we are on the cusp of a new way of approaching human genetic conditions, so it will be interesting to watch how this story unfolds in 2016.
Tech Companies Take On Genomics
In 2015, a number of technology companies moved into the genomics space:
Alphabet (the parent company of Google) launched “Verily,” a life science research organization that is collecting genetic and other information to understand the makeup of a healthy human.
Google Genomics launched a partnership with the Broad Institute to explore ways to allow researchers to access and use genomic information more easily.
Reports emerged that Apple, in partnership with academic institutions, was seeking to make the iPhone a tool for collecting data in genomic studies. Apple’s ResearchKit already allows people to easily participate in research, and the iPhone could be used as an interface to let people share their genomic information
The impact these tech giants may have on the genomics space is not yet clear, but they have the potential to make enormous changes to how we think about, access and interact with our genetic information.
Home DNA Tests
In February 2015, following the FDA’s ban imposed in 2013, 23andMe became the first company to win FDA approval to provide genetic health information directly to the public. The company now has several tests approved, all of which identify genetic variations that should have no consequences for the person that has them, but that could lead to illness in children if passed down. One interesting issue that has come to light here is whether these variations truly have no health consequences for the individual being tested. In some cases, this is not without dispute. Direct-to-consumer genetic testing will continue to become more accessible and affordable in 2016, and NSGC has resources for people who are deciding whether to order an at-home genetic test.
This time last year, we talked about President Obama’s Precision Medicine initiative, which aims to find ways to use genetic (and other) information to tailor treatments for individual patients. Healthcare providers, policy makers, insurance companies and others continue to discuss how precision medicine will be implemented on a large scale and how it will impact individual patient care. We haven’t seen specific details emerge, but we expect to see more developments in precision medicine throughout this year.
Genetic Counselors Are Genetics and Genomics Experts
In recognition of our expertise, genetic counselors have been increasingly called upon by other healthcare professionals and the media to answer questions and provide guidance related to genetics issues including hereditary disease and genetic testing.
This year, in recognition of our expertise, genetic counselors have been increasingly called upon by other healthcare professionals and the media to answer questions and provide guidance related to genetics issues including hereditary disease and genetic testing. Genetic counselors continue to stay up to date on the latest research findings and developments, and are here to help patients navigate health issues that have a genetic component that may impact families. Find a genetic counselor in your area by using NSGC’s “Find a Genetic Counselor” tool.
Jehannine Austin, Ph.D., CGC is president of the National Society of Genetic Counselors and is an associate professor in the Departments of Psychiatry and Medical Genetics at the University of British Columbia in Vancouver.
Released: January 13, 2016, 2:48 pm
| Updated: January 13, 2016, 3:02 pm