Dr. Catherine Nowak’s Medical Focus: 

“My medical career focuses primarily on the practice of clinical genetics and on genetic education.  As a clinical geneticist, I evaluate persons with congenital anomalies and/or intellectual disability and/or autism to determine if an underlying cause can be identified.  I search for diagnostic clues through physical exam and medical history (including pregnancy/birth and developmental histories and a multi-generation family history).  The physical exam focuses on unique features, unusual development of body parts or dysmorphisms known to be found in a specific syndrome.  A literature search and/or genetic database search may be added to help generate a differential diagnosis.  Specialized lab studies are recommended which may include chromosomal, molecular or metabolic studies.  Many lab results need further literature or database search before they can be interpreted.

Once a diagnosis has been determined, families and referring/consulting physicians are educated about the specific associated medical and developmental issues as well as the inheritance pattern.  Families often have no background in such concepts such that we start with a primer about basic genetic principles.  Patients are then generally followed in my practice on an annual basis to ensure that all recommended surveillance studies are done and interpreted in light of their diagnosis as well as to allow the family to continue becoming educated and to seek advice about medical and developmental concerns for their child.  We help families navigate through the social and educational systems and become strong advocates for their child.  I remain available to all clinicians who may have questions about how a diagnosis may impact their patient management.

Patients without a known diagnosis are also followed regularly for any newly developed issues which might aid in diagnosis.  Any advances in genetic testing can be utilized if indicated in the search for etiology.

As the Director of the Mother-to-Baby program, I ensure that the public and non-genetic physicians have access to information aimed at preventing environmental exposures, medication and drugs that could be harmful to a developing baby so that preventable birth defects occur less frequently.

In addition to my clinical work, I am passionate about genetic education at all levels.  I actively seek out opportunities to inform physicians and students about recognizing potential hereditary conditions in their patients.  I encourage the usage of non-stigmatizing descriptions for syndromic features. Clinicians need to be made aware of the high costs associated with molecular testing and the need for its judicious use and a determination of its utility.  I enjoy teaching lay persons from elementary school to college age as well as the community as a whole.  Genetic technology will increasingly impact our lives and I will continue to be a steward for its appropriate utilization.”