Genetic Testing and Counseling for Rare Diseases
Navigating a rare disease diagnosis is challenging for patients. Genetic counseling and genetic testing can provide clarity and support.
How We Can Help
Genome Medical provides genetic counseling and genetic test ordering, as medically necessary, to help identify the genetic causes of rare disease.
We support patients in understanding their unique genetic test results. With our expertise in rare genetic disease, we discuss what next steps, treatment or clinical trial options may be available to them.
These insights empower patients, families and their providers to make more informed health decisions.

Breaking Down Barriers in Rare Disease Care
It can take years and many appointments for patients to receive an accurate diagnosis for their rare disease. Genetic testing is an important step in this journey. But patients often face barriers to getting the genetic testing they need. These may include the cost of genetic testing, long wait times to see a genetic counselor or the travel required to go to a genetics appointment.
At Genome Medical, we offer genetic counseling appointments in all U.S. states. Our telehealth appointments provide care from the comfort of a patients’ home. Plus, patients can meet with one of our genetic counselors within one week.
We partner with cardiology, pediatric and neurology providers and life sciences organizations to make it easier for patients and families living with rare diseases to access these essential services.

The Role of Genetic Counseling in Rare Disease Diagnosis
Knowing the genetic cause of a disease can unlock opportunities for treatments or clinical trials for new therapies. However, understanding complex genetic test results can be overwhelming. Our genetic counselors work closely with patients and their providers to interpret and explain their genetic test results clearly. We help explain what a genetic finding may mean (and what it may not) to support decision-making.

Why Choose Genome Medical for Genetic Services?

How Genome Medical Supports Rare Disease Care
Genetic Counseling
Our genetic counselors can help patients understand what testing may be most appropriate for them. They can also help to explain what genetic test results may mean for the patient and their family.
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Delivering Family Testing and Genetic Counseling for Inherited Conditions
Many rare diseases run in families. Genome Medical can help individuals who have a relative with a known genetic condition. Our genetic counselors work with family members who may also need counseling and testing. We offer personalized support to help family members understand inherited risks.
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Connecting Patients to Clinical Trials and Research Opportunities
For patients with rare diseases, clinical trials offer access to new treatments. Genome Medical patients can choose to be contacted if we find a trial that might be right for them. We can match patients with trials based on their medical history and test results.

Transforming Rare Disease Diagnosis with Genome Medical
More than 40% of the patients we serve come to us with a rare disease indication. We have over 30 experienced clinicians and have delivered more than 240,000 counseling sessions. Genome Medical has the expertise needed to support patients and providers in navigating rare disease diagnosis and care.
Expertise Across the Spectrum
of Rare Diseases
No other provider has the breadth and depth of genetics expertise that we do at Genome Medical. Our experience covers multiple clinical specialties including these and more:
- Cardiovascular
- Neurodevelopmental
- Neurodegenerative
- Musculoskeletal
- Renal
- Immune deficiency
- Ophthalmologic
- Hearing loss
- Hematologic