The Daily Schedule Of A Medical Geneticist

The clinical settings in which patients are evaluated by medical geneticists determines the scope of practice, as well as the diagnostic and therapeutic interventions that are utilised. The evaluation and management of patients seen by genetic practitioners can be done at various setups and these may include the following:

• An in-hospital environment. This is most often the case since diagnostic evaluations would be done here.

• An out-patient genetics clinic where paediatric or adult patients or both are consulted.

• Involved patients can be referred to prenatal genetics clinic to discuss risks to the pregnancy (due to a family history of a genetic disease, exposure to teratogens or advanced maternal age), test results (abnormal ultrasound, abnormal maternal serum screen), as well as offering options for prenatal diagnosis (typically an amniocentesis or chorionic villus sampling).

• Specialty genetics clinics exists where a geneticist can concentrate on the management of different hereditary disorders such as lysosomal storage diseases or inborn errors of metabolism.

• Multidisciplinary specialty clinics (cardiovascular genetics, cancer genetics, craniofacial abnormality, muscular dystrophy or neurodegenerative disorder and hearing loss clinics) that include a medical geneticist or genetic counselor.

Monday

A medical geneticist will deal with administrative issues such as attending meetings with hospital or clinic staff, filling out letters for medical insurance companies and prescriptions for patients.

Patients that need treatment with intravenous medications like enzyme replacement or dietary supplementation are admitted for treatment and the specialist will see these patients. They will be discharged accordingly and then followed up and have bloodwork done to confirm whether the medication has worked or not.

Tuesday

The specialist will consult and counsel patients during this day. Patient information may be shared with other genetic specialists in order to help narrow down a difficult differential diagnosis list. Blood tests and appropriate investigations will be followed up and the patients will receive feedback and further management depending on the results.

Wednesday

The medical geneticist will attend out-patient or specific clinics, as mentioned above, in order to consult with and follow up patients who live in more rural areas and who travel to these clinics. This allows a greater exposure to patients who may fall through the proverbial cracks due to limited medical services being available.

Thursday

The specialist will consult and follow up with paediatric patients on this day. Counseling the parents of the patients is very important here and a lot of information needs to be conveyed during these consultations. The whole day would then be reserved for these consultations.

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Friday

The medical geneticist will consult and follow up with various patients again and manage them accordingly, schedule them for counseling with genetic counselors and book them for admission to the acute hospital for intravenous supplementation.

Any unresolved administrative tasks are finalised and the specialist then ends their work week.