Our process

Once a patient is accepted into the program, Dr. Kliegman and a geneticist talk with the family by phone to better understand the medical issues and to obtain the necessary medical records. Those records (often from multiple institutions) are reviewed by Dr. Kliegman, another relevant physician specialist, a geneticist and a genetic counselor. Imaging is reviewed by our radiologists and biopsy material reviewed by our pathologists. An extensive literature search is performed within 24 hours.

The information gathered is entered into a database we built specifically for the Diagnostic Odyssey Program and is presented to the entire team, which will make recommendations for further testing or imaging.

Our coordinators work with the family on all aspects of their care. If a hospital visit is required, the care team will work to arrange a visit. Visits may include several appointments and various tests.

In addition to coordinating the clinical care, we work with families on travel and lodging arrangements and facilitate communication with insurance companies.

Care close to home

Because travel is difficult for some patients, or they have been extensively evaluated at highly qualified medical centers, we communicate with these families by phone, email or video conferencing. We review the medical records and work with the child’s primary physician to plan further testing or have a sample sent to us for sequencing.

Collaboration with other clinical centers closer to the patient’s home has helped facilitate evaluation. At times it has allowed for use of specific tests or skills available closer to home.

A case management approach

The team leader will meet with the family at the start of the visit and at the end of each day. He or she provides any new information when it becomes available. In addition, a genetic counselor is assigned to each patient to provide the genetics care, accompany the patient to appointments and summarize the recommendations prior to departure.

Our genetic counselors have diverse knowledge and extensive experience working with families on genomic sequencing. They have counseling training and expertise in helping families understand and cope with complex medical illness. They get to know the patient and their health needs very well. This promotes patient-centered care, uses resources effectively and ensures effective and consistent communication.

Principles incorporated in our reviews

1. Respect, but do not accept, all previous diagnoses without our own assessment or evaluation.
2. Review the actual imaging studies and, if possible, any biopsies. Do not rely solely on the report.
3. Explain to the patient and their family (for minors) that they will meet at least two physicians and a genetics counselor who will ask similar questions. Having different people ask the same questions can provide clues to the undiagnosed disease and leads to a better diagnostic plan.
4. Ask the family to retell the illness from the very beginning. If more than one problem has been identified, use the same approach for each issue.
5. Conduct an extensive literature search focusing on less-well-known examples of common and uncommon diseases.
6. Never disregard even the slightest clue in the child, family or environment.
7. Look for patterns of illnesses. When the issue does not fit the pattern, broaden the potential diagnosis.
8. Consider all potentially helpful tests and recognize that genetic sequencing may be less expensive than many individual candidate gene tests.
9. If a diagnosis is not immediately made, continue to work with the family.
10. Use our unique database to help the clinical team evaluate the often large amount of data collected.