Penelope Program
FINDING ANSWERS FOR UNDIAGNOSED DISEASES
University of Utah Health's Penelope Program for Rare and Undiagnosed diseases is dedicated to solving some of most complex medical cases in our community. Finding answers can unlock better care, novel therapies, and helpful connections with others facing similar circumstances.
The Penelope Program
Undiagnosed diseases are some of the most daunting challenges in medicine. Families often spend years—if not decades—searching for answers to the mysterious illnesses affecting their children. Responding to this challenge, the U of U Health in 2015 launched the Penelope Program.
The Penelope Program is a collaboration between the Department of Pediatrics, the Department of Human Genetics, ARUP Laboratories, Utah Center for Genetic Discovery, Center for Genomic Medicine, and Primary Children’s Hospital.
Team, Technology, Access. The core of the Penelope Program is our team of experienced clinicians, molecular geneticists, and data scientists. The team’s pooled knowledge and experience help evaluate the family and child from different angles. We carefully study a child’s clinical records and prior testing to identify diagnostic gaps and opportunities, and prepare a diagnostic plan tailored to each situation.
As part of the Penelope Program, the team has access to advanced diagnostic tools, some of which are not yet clinically available. Using novel bioinformatic tools, we can mine prior genetic testing for diagnoses that may have been missed. We can deploy advanced new sequencing, including novel ways to sequence DNA and RNA, to probe the depths of a complex genome.
We also intentionally work to increase access and reduce disparities by working with families to support the evaluation and diagnostic testing of children regardless of their means, health insurance coverage, or barriers to care.
Generous support. Philanthropy and institutional support are crucial to our mission. We are especially grateful to Mark and Kathie Miller. Their generous support of the Penelope Program through the Mark and Kathie Miller Pediatric Genomics Fund enables us to serve families and support the program’s advances in cutting-edge testing and evaluations.
New developments: The Penelope Program is now part of the Undiagnosed Disease Network. The Penelope Undiagnosed Diseases Program is now recognized as a Diagnostic Center of Excellence (DCoE) within the Undiagnosed Diseases Network (UDN). As a UDN Diagnostic Center of Excellence, the Penelope Program is part of a national network of leading centers dedicated to providing comprehensive diagnostic evaluations and advanced care for individuals with undiagnosed conditions. The Penelope program focuses mainly on children and families in Utah and the surrounding areas. Working with the UDN, we can provide additional help and expertise to these families.
What is the UDN? The UDN is a national research program for undiagnosed diseases, supported by the National Institutes of Health. We encourage providers who are unsure whether to refer to the Penelope Program or the UDN’s clinical site to contact us at penelopeudp@hsc.utah.edu, so we can discuss options and answer questions. Other sites in the UDN have additional funding to support broader activities, including the evaluation of adults and travel to the clinical site. We encourage families and providers to apply to the UDN if the evaluation is for an adult or families living outside of Utah and the surrounding areas.
One in a Million
A glowing example of translation between medical discovery and intervention, the Penelope Program uses the power of genomic medicine to end suffering and improve quality of life.
How to Apply
WHO CAN APPLY. The Penelope Program currently focuses on children with serious, complex conditions who remain without a diagnosis despite multiple evaluations.
- Based on many years of experience, we have seen that certain elements increase the change of a successful evaluation:
- Having clear objective findings (by clinical assessment, laboratory testing, imaging, etc.). A thoughtful referral letter from the provider highlighting these findings is invaluable.
- Committed family and referring provider, willing to partner with the Penelope program for the duration of the evaluation. This means, for example, prompt communications, sharing of past records, and willingness to be tested to help diagnose their child.
- Additional elements that increase the chance of identifying a genetic cause include having a positive family history (one or more other family members with a similar presentation), early onset (the condition was identified early in life) and having both biologic parents also available for testing. However, these are not essential requirements to apply.
Because of the significant commitment and cost associated with these evaluations, the program can see a limited number of families every year. We review in detail every referral, including associated medical records. We may request further information if needed.
For those families who are not entered into the program, we typically provide diagnostic recommendations and suggestions. For example, if a child has not seen a medical geneticist or a specific specialist in the past, we may recommend such clinical evaluations, prior to considering further the referral.
HOW TO APPLY. To expedite the evaluation, we ask that the referral come from the family’s healthcare provider, in the form of a detailed letter summarizing the clinical history, past testing, and reason for the referral. This letter can be emailed to penelopeudp@hsc.utah.edu.
Some points to note.
- A sample referral document can be found here. A complete, detailed letter will make the evaluation much more efficient. An accompanying letter from the family can be added but is not essential at this stage. However, we ask that the provider first discuss the referral with the family to be sure they are willing to commit to the evaluation. This will save time and effort in the long run.
- The referring provider can be their primary care provider or one of the specialists caring for the child (e.g., their neurologist, cardiologist, hematologist, etc.).
- If the provider is unsure about the referral or would like to discuss the possibility of referral, they are welcome to contact the program at penelopeudp@hsc.utah.edu.
The Best Care that Science and Medicine Has to Offer
What to expect in the evaluation. The Penelope Program leverages U of U Health’s strengths in medical genetics, many subspecialties, and state-of-the-art DNA analysis. Patients take part in a thorough evaluation that includes:
- a complete clinical history review
- medical examinations with detailed phenotyping by multiple specialists
- advanced genetic testing including genome sequencing or RNA analysis.
With this information, our experts collaborate to arrive at an in-depth understanding of each patient’s condition with the goal of finding an underlying cause and improving care.
This medical evaluation is just the beginning. A core mission of the program is an enduring commitment to patients and their families. While not all patients receive a definitive answer immediately, sometimes a diagnosis becomes possible as science advances. With this in mind, patient cases are re-reviewed periodically. Our staff further assist families by connecting them with social, community and support services.
SUPPORT GENOMIC MEDICINE AND RESEARCH
Your generous donation to support rare and undiagnosed disease research will not only help find answers for patients and their families, but will also go toward developing new treatments, and maybe even a cure. There are many ways your gift can support genomic medicine and research.
GIVE TODAY
Partnering to Make a Difference
Our physicians and researchers are changing the way rare and undiagnosed diseases are diagnosed and treated, and advancing our understanding of health and disease.
The Penelope Program is a proud partnership between:
Penelope Program Team
