NYCKidSeq is a research study being conducted at Mount Sinai and Montefiore Medical Centers. The study will include children referred by one of our study’s health care providers because they think the study may help make a diagnosis. If your health care providers told you about this study and you are interested in your child taking part, please contact us.
Every child in the study will receive two types of genome sequencing:
(1) Targeted Gene Panel
This type of testing looks through some of your child’s genetic material to identify a cause for their health problems.
(2) Whole Genome Sequencing
This type of testing can look through all of your child’s genetic material to identify a cause for their health problems. We are conducting two tests because we want to learn which of these two types of genomic tests gives more useful results.
1. Can your child take part?
They must be between 0-21 years old and have epilepsy (seizures), developmental delays, heart disease, or difficulty in fighting infections due to low immune system,
They must not have a known genetic cause for their epilepsy, developmental delays, heart disease, or low immune system.
One or both of their parents must speak English or Spanish AND be available to complete three surveys over a nine-month period,
Your child must be a patient at Mount Sinai or Montefiore,
You and your child must not have had genetic testing or genetic counseling in the last six months, and
You and your child must be able to return for two or three study visits.
2. What is the purpose of NYCKidSeq?
In this study we hope to learn:
If genome sequencing can help families find a cause for their child’s health problems.
The best ways to explain genome sequencing results to families like yours.
Which type of genomic testing (whole genome sequencing vs. targeted gene panels) gives more useful results.
3. Are there risks in taking part?
There are risks associated with any research study. The study team will review all risks with you before you decide if you and your child want to take part.
4. Do I have to take part? What will happen if I decide not to?
No. It is your choice. Your decision will not affect you or your child’s medical care at Mount Sinai or Montefiore.
5. Do I have to pay anything?
No! If your child is eligible to take part, they will receive genomic testing at no cost. We will work with you to schedule study visits at a good time for you.
6. Can I/my child continue to see their own doctor?
Yes, and results of the genomic testing will be a part of their health record at Mount Sinai or Montefiore.
7. Can more than one of my children take part in this study?
Unfortunately, we can only offer genomic testing to one child in each family referred to us through the study’s health care providers.
8. How can NYCKidSeq help my child?
Your child will receive two genomic tests. The results of these tests might show a cause for their health problems or help the doctors take better care of your child.
9. What might the genomic testing results show?
Results may show that: 1) there are disease-causing genetic variants in your child's DNA, 2) there are no noticeable genetic variants, or 3) the results may be “inconclusive.” An “inconclusive” result means we cannot be sure whether the genetic variant found in your child’s DNA explains his/her health problems.
10. What will happen at each visit?
You will complete 3 study visits over 9 months. You will not be billed for any study-related visits. That means that your child’s genomic testing will be done at no cost. If your child requires any more tests or treatments, please let your health care provider know if your child does not have insurance, they may be able to assist you with getting insurance.
(1) Pre-Visit: Baseline Consent and Initial Survey (1 – 1 1/2 hours)
A well-trained person from our study team will review a consent form with you that explains all the things that are part of the study and the possible risks and benefits, so you can decide if you want to take part.
You will complete a baseline survey, either in person or by the phone. A survey is a series of questions.
The person from our study will work with you to schedule your next study visit.
(2) Visit 1: Baseline Visit: Informed Consent and Pre-Test Genetic Counseling (1 – 2 hours)
You will meet with a genetic counselor who will discuss the testing, ask about your child’s medical history, and the family history of both biological parents.
We will collect a blood sample from your child and from one or both biological parents.
We will send your child’s blood sample for genomic testing and the parent’s samples to the lab to help us find a diagnosis for your child’s health problems. If neither biological parent can come to the visit, we will send home a saliva kit for them.
At the end of this visit your family will receive a $20 gift card. For many families, the pre-visit and Visit 1/Baseline can occur on the same day.
(3) Visit 2: Return of Results/ Follow Up Visit 1 (1 – 2 hours)
About 3 months after you provide a blood sample, you will return to receive your child’s genomic testing results. ■ All patients will meet with their genetic counselor to review the purpose of the study, explain your child’s results, and answer your questions.
Half of the patients will also receive their results using a new guide called “GUIA” that we have developed for this study.
You will complete a survey with the study coordinator or complete it by phone soon after the visit. ■ At the end of this visit your family will receive a $20 gift card.
(4) Visit 3: Return of Results/ Follow Up Visit 2 (1 hour)
About 6 months after receiving your child’s test results, you will complete a survey in person, or by phone, about your and your child’s experience with the study.
At the end of this visit your family will receive a $40 gift card.