A medical geneticist is a specialty doctor who is educated and trained to treat and diagnose genetically-related diseases. They may also be used to provide genetic counseling and assistance in determining genetic issues prenatally to prevent genetic birth disorders. Genetic disorders are caused by abnormalities in a person’s chromosomes or their genes.

For medical conditions and syndromes which affect patients from birth, a medical geneticist may be consulted to help understand a specific diagnosis or find the root cause of medical problems. They provide preventative tips and ongoing treatments to help with the symptoms resulting from genetic conditions.

Medical geneticists help both children and adult patients with medical conditions including neurological issues, trouble with metabolic disorders, and connective tissue disorders.  Patients who are already affecting with a genetic condition as well as those predisposed through family heredity to develop conditions can use the intervention services of a medical geneticist.

During the initial consultation, the geneticist will discuss your medical history as well as your family’s history. They will provide a physical exam and review any medical information provided by your primary care physician. They may order routine blood tests or other laboratory testing to confirm diagnosis or to develop a treatment of symptoms.

There is no guarantee a first visit will result in a diagnosis and ongoing exams may be necessary. Prescription medication may be required to alleviate pain and other symptoms brought on by the condition. The geneticist will likely continue to work with your regular doctor to provide treatment and support related to genetic conditions.