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Roberts IMGC Research

Roberts IMGC Research

Pediatric Genomic Sequencing Project

The Pediatric Genomic Sequencing project is working to do a more detailed analysis of all genetic testing for CHOP patients. The project’s purpose is to learn how genes relate to health and disease. 

  • IMGC Research

    Hi and welcome to the Roberts Individualized Medical Genetics Center at Children's Hospital of Philadelphia. We are a group of researchers and clinicians and we would like to thank you for taking the time to learn more about our research efforts.

    Many childhood disorders are genetic. Genetic testing such as Exome Sequencing helps geneticists like us identify possible disease causes, explain patient symptoms and potentially alter their medical care. Yet, there is a gap in our knowledge. We have approximately 20,000 genes in our body and we understand only 25% of them. That's about 6,000 genes.

    Also pediatric genetic conditions usually are so rare that it could take many years for an individual researcher to collect and analyze enough samples to pinpoint gene abnormalities causing health problems. Through the pediatric genome sequencing project, we aim to reduce some of these research barriers by providing a common platform for researchers within and outside of CHOP to collaborate and accelerate genomic discovery.

    With your help, we are creating a biorepository to help researchers learn how genes are related to health and disease, especially rare pediatric disorders.

    We are enrolling children, and family members with the suspected genetic condition, however we are not focusing on a particular disease or gene of interest. By participating, you might help us learn more about a condition’s genetic cause, increase our knowledge of genes and clinical outcomes for other children.

    Interested participants will be asked to: sign a consent form for a one time visit and phone call, provide one to two tablespoons of blood, get permission for the team to review your health records and test data, allow us to re-contact you about potential future research, agree to future linking of your coded data with your full medical record, if permitted by oversight committees.

    Once we received the samples and data, we will remove all names and identifiers and store the coded samples in the CHOP bio bank for future use. This will streamline the research process by providing CHOP researchers and our partner institutions with easier access to a robust resource to share data.

    And researchers who use these samples, may find results they wish to return to you but this is not guaranteed. The risk of participating might be: possible pain, bleeding or bruising from blood draws, potential risk to privacy, confidentiality, and genetic testing.

    If there are any research opportunities with additional necessary permissions, our clinical research team will get in touch with you. Also, if you opt in to receive research results, we will contact you.

    Please note, that you will not be paid for your participation and will not receive charges.

    Thank you again for learning about the Pediatric Genomic Sequencing Project and considering to participate. Your help in this research could lead to novel discoveries or therapies benefiting children with rare disorders.
Transcript Transcript

Schedule a consent discussion with us!

You can learn more about the study with one of our research staff. We can schedule a phone call appointment, or schedule a time when you are visiting inpatient, or before/after an outpatient visit using this link. (In-person appointments for Philadelphia Campus Only)

Frequently Asked Questions

Am I eligible to participate?

All patients at CHOP with a known or suspected genetic condition are eligible to participate as well as any biological family members.

What are the study procedures?

We will complete this study by reviewing medical records and previous genomic information. We may also collect different types of samples from your family if you give permission. 

Blood Sample*: The most commonly used type of sample. If possible we will coordinate this with a clinical blood draw or use leftovers from a clinical draw. 

Saliva Sample: We may ask for a saliva sample or cheek swab to perform DNA extraction

Other Samples 

  • Tissue samples*: If you child is having a surgery, we may ask for a small piece of extra tissue to be collected at the time of the procedure. For example, a tiny piece of diaphragm muscle could be collected during a clinically scheduled procedure to repair a diaphragmatic hernia. 
  • Skin Biopsy*: A CHOP doctor may perform a skin biopsy which includes use of numbing medication, a 3mm punch, wound cleaning, and placing a bandage. There would be no need for stitches. 
  • Esophageal Biopsy*: If an endoscopy with biopsy is performed as part of your care, we can request permission to obtain additional biopsies to be taken at the same time. 

*You must give additional consent to participate in these procedures.

How will my data/privacy be protected?

All identifiers (names/birthdates etc.) will be removed and coded. This means it will be replaced with a unique code number. The study team will not share the links between your identity and coded study information with anyone outside of the team. If we share information with an outside researcher or publication we always keep your identity private. We use CHOP approved systems to ensure data security and comply with CHOP’s Privacy Policy.

What can you do with my data/samples?
  • We can isolate genetic material (DNA, RNA, proteins) to be used for analysis and sequencing
  • We can grow, store, and freeze blood cells to be able to use additional analysis without a new blood sample
  • Additional analysis and sequencing can include various types of genetic tests or re-analysis of existing data to help us better understand functions of genes that may be unknown and which tests may benefit our patients the most
    • We do not guarantee any specific analysis be done on your samples and we cannot guarantee results

Will I receive results from this study?

You may receive results about your main health issue and possible secondary findings by participating in this study. You must consent to receive results to obtain this information. 

Results must be clinically validated to confirm the research findings before being returned to you. 

What are the risks involved?
  • Blood Draws: Pain, bleeding, or bruising at the spot where the needle enters the body. 
  • Skin Biopsy: Pain, bleeding or bruising at site of collection. 
  • EGD Biopsies: Extremely low risk of bleeding or perforation, not significantly greater than risk being incurred during clinical biopsy collection
  • Privacy/Confidentiality: We cannot 100% guarantee confidentiality since there is a link to your coded data and identity. However, we keep strict requirements for viewing and sharing data (see “How will my data/privacy be protected). 
  • Risks of Genetic Testing: If you are already undergoing genetic testing, risks and protections are the same for taking part in research. 
    • Some people experience frustration, anxiety, depression, anger or fear from receiving genetic testing results. 
    • We will not reveal information regarding parentage unless required by law. 
    • Federal Law also protects your genetic information with GINA 
      • Genetic Information Non-discrimination Act prevents health insurance companies, group health plans, and most employers from discrimination based on genetic information. 

Are there any benefits?

There are not direct benefits. You may learn about the genetic cause for your diagnosis or other health issues but it is not guaranteed. This study may help increase our knowledge of genes to improve care, treatment, and prevention of health problems in the future. 

Are there additional costs/financial information?
  • There are no costs to take part in this study. Any analysis or testing is performed under a study budget. 
  • You will not be compensated for taking part in this study
  • Any usual medical care costs outside of this research will continue to be billed to you or your insurance

Who can I contact about the study?

The Principal Investigator is Ramakrishnan Rajagopalan, PhD. 

You can contact our study team here: 

Text/Call: 267-233-2771

Email: rimgcresearch@chop.edu

The Children’s Hospital of Philadelphia

34th Street and Civic Center Blvd., Abramson Research Bldg 1007

Philadelphia, PA 19104

What has the study found so far?

This is a sampling of some of our recent publications using data or samples from this research

  • Parent- and Intensivist-Reported Utility for Neonatal Genomic Testing: https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2847518
  • RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS: https://www.medrxiv.org/content/10.1101/2024.01.09.23300329v1
  • Clinical Utility of Exome Sequencing in Infantile Heart Failure: https://pmc.ncbi.nlm.nih.gov/articles/PMC7339672/
  • A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data https://pmc.ncbi.nlm.nih.gov/articles/PMC6993336/ 
  • Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111: https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.63530
  • Dominant-negative mutations in CBX1 cause a neurodevelopmental disorder:https://www.biorxiv.org/content/10.1101/2020.09.29.319228v3.full.pdf
  • Expanding the phenotypic spectrum of ARCN1-related syndrome: https://www.sciencedirect.com/science/article/pii/S1098360022006517
  • Long-read sequencing for molecular diagnostics in constitutional genetic disorders: https://pmc.ncbi.nlm.nih.gov/articles/PMC9561063/