Common referral indications to our Medical Genetics Program include: Developmental delay/intellectual disability, autism spectrum disorder, neurological disorders including seizures/epilepsy, movement disorders or neuropathies, short stature and skeletal dysplasias, hearing loss, cardiac conditions including arrhythmias, cardiomyopathy, congenital heart disease birth defects, known genetic conditions in the family, such as cystic fibrosis or Huntington disease, suspicion of a genetic syndrome based on physical characteristics or other features, personal or family history that might suggest an increased lifetime risk of cancer.

Shodair’s Medical Genetics Program provides Montana’s only comprehensive care for children and adults with genetic conditions. A team composed of a medical geneticist (MD who specializes in genetics) and a certified genetic counselor provide comprehensive services including diagnostic evaluation, care coordination, and risk assessment. In addition to ordering genetic studies the geneticist is also involved in the test analysis, allowing for seamless care integration that benefits the patients’ as well as their families. Finally, a licensed clinical psychologist provides neuropsychological assessments, as indicated.

Cancer Genetics
Shodair’s Cancer Genetics Program provides consultation and risk assessment for individuals with personal or family history that might suggest an increased lifetime risk of cancer. Ideally, a family history questionnaire (link) is completed by the patient in advance of the visit. This information allows for various risk assessments and the most accurate information, discussion, and recommendations.

Patients are seen in our monthly Helena Cancer Clinic and throughout the state via telemedicine. Visits include comprehensive consultation by a medical geneticist and genetic counselor.

Biochemical Genetics and Newborn Screening Follow up
Shodair’s Biochemical Genetics Program in collaboration with Children’s Hospital Colorado cares for children and adults with inborn errors of metabolism or mitochondrial disease.

Metabolic disorders are rare and often diagnosed in the newborn period through newborn screening (“heel prick test”). Symptoms of metabolic disease vary widely from mild to life-threatening.
Our specialized team provides comprehensive services including diagnostic evaluation, nutritional assessment and management, genetic counseling and risk assessment.

Genetics Laboratory
The Genetics Laboratory at Shodair Children’s Hospital provides answers to families through the diagnosis of rare and complex genetic conditions. Working in tandem with the Clinical Genetics program at Shodair, state-of-the-art genetic techniques are utilized to provide accurate, affordable diagnoses for patients of all ages. Traditional genetic technologies are complemented by cutting-edge techniques such as chromosomal microarray analysis and next-generation sequencing. Our staff is committed to assisting clinicians in selecting the appropriate testing for their patients, and providing the best possible support for our clients in understanding the results. In addition, assistance in the pre-authorization of genetic testing is provided to patients and ordering clinicians.

Dr. Abe Elias, MD

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