Now You Can Genetically Test Your Child For Disease Risks. Should You?

Before Cheryl Connolly gave birth to her first child, Loudon, she went through the checklist of all things that our parents would have to do today:

1. Make a birth plan.

2. Permission for the newborn heel prick test for metabolic diseases.

3. Bank are umbilical cord blood.

But now, she learned, there was a new one to consider: Follow his DNA.

Connolly knew of an ongoing genomics research study called MyCode, which would allow his physician to take a sample of Loudon's umbilical cord and send it to a laboratory that would look for mutations in his genetic code. Run by the Geisinger health care system in downtown Pennsylvania, where she worked as a fundraiser, the genetic test evaluated his chances of developing a large number of disorders that can occur in childhood, from abnormal heart disease to cystic fibrosis to high cholesterol.

Neither Connolly nor her husband, Travis Tisinger, had a history of childhood diseases in their family or was aware of any hereditary disorders that they might pass on. But when she learned that the program was expanding to her birthplace, the couple decided to test, which would mean a blood test and saliva with swabs. Then a colleague suggested to test Loudon too. The decision was simple for them.

"You hear that children on a ball court die of heart conditions that could have been prevented," says Connolly, who was seven months pregnant. "Why would not you want to know as many of these things as you could?"

Well, it is not that simple. On the one hand, you can learn valuable information, such as whether your child has the dangerous high cholesterol gene, a treatable condition called familial hypercholesterolaemia, that affects up to 250 people and increases the risk of early heart disease by a factor of 20 the FH Foundation. This may prompt you to have your child start on a low-fat diet or ask your pediatrician for statin therapy. Currently, the American College of Medical Genetics and Genomics (ACMGG) has nominated 56 genes for variants that "would result in a high probability of serious disease that can be prevented if identified before the symptoms occur."

(Many women already do some genetic screening before the baby is born. In addition to a first trimester ultrasound, an increasingly routine blood test of the mother and fetus analyzes DNA to detect certain chromosomal abnormalities, including Down's syndrome after 10 weeks. But the test has a limited scope and there is a higher risk of false positives in younger women.)

On the other hand, you can also discover something terrifying that you can not prevent. A growing number of labs and apps will reveal the potential of a child to develop certain cancers or incurable diseases, such as Parkinson's and Alzheimer's, which would only appear if your child was large or not at all. The potential medical, psychological and social implications of this unknown area have prompted the American Academy of Pediatrics and ACMGG to oppose genetic testing for disorders involving the onset of pregnancy, unless an intervention in childhood initiated to reduce morbidity or mortality.

Advances in genomics now offer parents the opportunity to look into their children's genetic future in ways they may never have imagined. Now the question is: do they have to know everything?

"When we talk about fish around genetic disorders in healthy children, we get into the weeds, unless we can offer something that is now medically feasible to reduce the risk later," says Naomi Laventhal, a neonatal doctor and bioethicist. the University. from Michigan's Center for Bioethics and Social Sciences in Medicine. "The big question is, how much do we want to know - and what can this information really tell us?"