Recently Answered Questions

Click on the questions below to see the answers to recent questions!

Q: You mention in your blog posts that not every state screens for the same conditions. Why is this the case? When my baby is born, how can I make sure that she is screened for everything?

Q: My husband and I are interested in having a home birth. How can we be sure that our child will receive newborn screening if we don't deliver at a hospital?

Q: What do you recommend that parents do when they have a suspicion or concern that their child's developmental delays or disabilities are due to a genetic condition? If a primary care provider is unconvinced that screening is necessary, what should a parent's course of action be?

Q: My 2 yr old son has a platelet disorder. He has enough platelets but they don't work as well as they should so when he has a large bleed or a head injury he needs a platelet transfusion. Our children's hospital has done all of the testing they can and could not find the cause of the platelet disfunction. My question is whether genetic testing would help treat my son's condition. To put it another way, is there a known genetic disorder that has this symptom that would cause us to alter our care or would we do the same thing regardless of the test results.

Whole Genome Sequencing FAQ's

Q: Our child, myself and my husband have gone through whole genome sequencing and have the result and are in need of further information as not much is currently known about the mutation (or is not in literature that can be accessed) in the gene that was found. We would like to connect to researchers worldwide who are currently working on the gene for more information. It is likely the causal gene in our child's condition (from what is known about the gene). How do we do that?

Q: We talk about the costs of the sequencing and how those costs are coming down. What are the strategies going forward to dealing with the enormous amounts of data from whole gene sequencing and the associated costs with the data analysis?

Family Health History FAQ's
Click this link to see the questions on Family History submitted to our previously featured experts.

Other FAQ's