Shadowing a DoctorJuly 28, 2014
Clinical genetics deals with the diagnosis of birth defects and disorders that are caused by genetic mechanisms. It also involves risk assessment of an individual and genetic counselling of the family members.
The specialty of clinical genetics is evolving rapidly with huge advancements being made in molecular diagnostic techniques and increased knowledge about genetics and common disorders.
Clinical genetics is multidisciplinary. Professionals who specialise in this field generally work in regional genetics centres, along with genetic counsellors, scientists and academics.
As a clinical geneticist, you would not prescribe or undertake any kind of operative interventions. Instead, you would advise on appropriate management of rare disorders, the necessity for genetic testing and the subsequent screening of ‘at risk’ family members. An important role for specialists in this field is advising on the availability of prenatal testing for a specific disorder. Clinical geneticists are frequently involved in complex moral and ethical dilemmas related to genetic testing.
You could be working in a general genetic clinic, or a specialist clinic such as prenatal genetics, paediatric dysmorphology, neurogenetics or cancer genetics.
During your work day, you would work closely with neurologists, paediatricians, obstetricians, oncologists, cardiologists and cancer surgeons.
There is little or no shift work or out-of-hours work in clinical genetics. Most consultations are outpatient based with occasional requests for diagnostic opinions mostly within neonatal units and sometimes in paediatric or adult wards. You can expect to do intensive preparatory work, including literature searches before and after seeing a family.
Other professionals who may work in the same team as you include: genetic counsellors, academic colleagues or molecular and cytogenetic laboratory staff.
The types of patients you will see will usually be anyone who has a genetic concern or condition that can be referred to the clinical genetic service. This will include patients of all ages with varied conditions.
An interest in the molecular aspects of disease and investigation is essential for this career along with good verbal and written communication skills. Laboratory and research skills are also important. In a rapidly changing specialty such as this, it is vital to be prepared to learn constantly and be willing to change your practice accordingly.
The excitement of making rare diagnoses and contributing to the medical literature is one of the most rewarding aspects of this specialty. The pleasure of dealing with families, rather than individual patients is another enjoyable aspect. Although clinical geneticists sometimes have to give distressing news, the families themselves are often relieved to get an explanation and better understanding of the disease instead of having to live with not knowing what caused the disease and why.
The most challenging aspect of working in this specialty is the broad range of patients and conditions. As a clinical geneticist you must be prepared to deal with families and may have to see patients across all age groups, from babies to the elderly when investigating a particular case. Another challenge is keeping abreast of rapidly evolving diagnostic and molecular technological developments taking place within this field.