These are questions many parents may soon grapple with and for which researchers at The Children’s Hospital of Philadelphia are working to find ways to guide and support families.
In 2011, CHOP announced a partnership with BGI, the world’s largest genomics institute, to pursue large-scale genetic sequencing and, ultimately, delve into the genetic origins of devastating childhood diseases.
But examining a child’s entire genetic makeup can have unexpected consequences. Scientists are likely not only to learn about the disease in question, but to discover risk factors that predispose a patient to various conditions now or long into the future.
How much of that information — known as “incidental findings” — to share and how best to do so is the subject of a major study, sponsored by the National Human Genome Research Institute, that began in December 2011 at CHOP and at several other centers nationwide. Principal investigators Nancy Spinner, Ph.D., and Ian Krantz, M.D., (shown above) will lead the work that explores these questions over the next four years.
The project will conduct genetic testing for four cohorts of disorders: hearing loss, mitochondrial disease, sudden cardiac arrest and intellectual disabilities — all known to be the result of multiple gene mutations. Hence, whole genome sequencing for patients with these conditions makes sense.
But for the CHOP team and their colleagues in the research consortium, the real question will be how to handle “extra” information that comes with a close look at patients’ genomes.
Currently the team is meticulously developing the framework to manage ethical and legal considerations surrounding the testing. Only then will the first patients be enrolled, probably within the next year. Families who undergo sequencing will learn everything related to the condition they are tested for. They will then have the option to learn about incidental findings.
“This is truly the future of medicine,” says Spinner, chief of the newly formed Division of Genomic Diagnostics. And a glimpse into the future of ourselves.
“One of the goals of the field is: Can we use this in a preventive way to understand what each of our sensitivities are? By knowing that, we can make decisions that are going to maximize our health.”
Nancy Spinner, Ph.D., director, Division of Genomic Diagnostics