What if just days after giving birth, you could find out what diseases or medical problems your child will develop? Would you want to know? For some parents, the answer is a resounding YES.
BabySeq, an NIH-funded study is providing new parents that option. Scientists are offering gene sequencing for newborns, which will give a detailed look at a baby's genetic information. Half the babies in the study will be screened for childhood diseases, the other half for major genetic disorders such as cystic fibrosis, Tay-Sachs and sickle cell. Researchers will then follow both sets of babies.
They're particularly interested in the 1,514 genes that reveal mutation for a treatable or preventable diseases. Already, they have found something to report in every baby that they've tested so far. The scientists want to see what happens when parents know their child's genetic blueprint from birth. Will knowing make them healthier, increase health care costs or change the child's relationship with their caregivers?
For some parents, it brings on fears they never anticipated. When Alyssa and Jason Garcia had their 3-day-old son Kai tested, they didn't think doctors would find anything. However, the report came back alerting them that he had supravalvular aortic stenosis, a mutation in the gene that codes for a protein called elastin. It helps the heart muscles bend and stretch, but not producing enough can cause the aorta to narrow and possibly result in death. It requires many surgeries as the patient grows up.
Needless to say, the Garcias are terrified this means their baby will get sick, not be able to play sports or need operations. Right now, Kai isn't showing any symptoms and the most their pediatric cardiologist can do at the moment is monitor him every few months. And, since the gene sequencing on the baby may indicate a problem with family members, his father and grandmother could carry the gene and may be at risk.
Another family learned that their baby had the BRCA2 gene, which increases the risk of breast, ovarian, prostate and pancreatic cancers. As an inherited mutation, that means the mother and father could be at risk too.
It's a lot for a family to take in, but doctors note that what they learn is potentially lifesaving.
Still, most parents who researchers approach to go through the testing say no. They fear the testing results being a part of their child's permanent medical record, which could affect their ability to get health or life insurance coverage later in life. It's certainly a legitimate fear. For parents who are given the option for genetic sequencing, they ultimately have to weigh the benefits of knowing versus flying blind like the rest of us.