Clinical Genetics
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The Division of Clinical Genetics at Joe DiMaggio Children's Hospital evaluates and diagnoses genetic conditions in both children and adults, and provides appropriate treatment or referrals based on each patient's needs. Genetic testing is a very complex process, and patients should be evaluated by a clinical geneticist who understands how genetic testing works and how to interpret the test results.
Our team of genetic professionals includes:
- Board-certified clinical geneticists
- Board-certified genetic counselor
- Registered dietitian specializing in metabolic conditions
Our team works together to provide genetic evaluation, counseling and health management services to patients of all ages – from pregnant women and newborns to seniors.
Genetic Counseling
The results of genetic testing can seem overwhelming and confusing. Our board-certified genetic counselor explains genetic testing results in a way that is easy to understand. The counselor will discuss recurrence risks and inheritance patterns, which can be important for families considering future pregnancies.
You will likely see a genetic counselor if you have:
- A personal or family history of a genetic disorder
- A child with a genetic disorder or birth defect
Why Would You Visit Genetics?
There are many reasons a child or adult may be referred to genetics clinic. Often genetic testing can help identify a cause for the following conditions:
- Developmental delay/intellectual disability
- Autism spectrum disorders
- Birth defects
- Neuromuscular disorders
- Cardiomyopathies
- Failure to thrive or growth retardation
- Obesity
- Hearing loss
- Seizures
- Marfan syndrome and other connective tissue disorders
- Prader-Willi syndrome and Angelman syndrome
- Inborn errors of metabolism
In other cases, patients see us after another doctor has ordered genetic testing that has confirmed one of the following:
- Chromosomal anomalies (i.e. Down syndrome, Turner syndrome, trisomy 13, trisomy 18)
- Microdeletion/microduplication syndromes
- Positive result on a single gene or panel test
- Variants of uncertain significance found on chromosomal or gene testing that needs further interpretation
Other reasons to be referred to genetics clinic include:
- Prenatal drug or alcohol exposure
- Family history of a genetic condition
- Preconception (family planning)
What Makes Our Practice Unique?
- Our board-certified geneticists have more than 50 years of combined experience treating various types of genetic conditions.
- Our specialists have helped contribute to the discovery of new genetic conditions and have authored numerous medical publications describing these conditions.
- Our geneticists have helped to enroll patients in clinical trials to seek out new, exciting treatments for rare genetic conditions.
- We offer genetics evaluations in English, Spanish and Russian.
Our geneticists each have unique areas of expertise and have established various multidisciplinary clinics to make caring for your family member with a genetic condition easier.
Metabolic Genetics Clinic – Every Monday
All three of our physicians are board certified to treat metabolic genetic conditions including (but not limited to) PKU, MSUD, Propionic academia, methylmalonic academia, galactosemia, carnitine deficiencies, MCAD, etc.
- They work closely with our metabolic dietitian to optimize diets and calorie intake.
- Each patient receives an individualized treatment plan and sick-day protocols.
- Patients have the option to meet with a genetic counselor to discuss results and future family planning if desired.
Craniofacial Clinic – Every Tuesday
If you or a loved one was born with a facial difference such as cleft palate, cleft lip or Pierre Robin sequence, genetics is part of a multidisciplinary clinic that will evaluate and guide your child’s treatment. Learn more about cleft and craniofacial conditions.
Marfan Clinic – Third Friday of the Month
If you think you could have Marfan Syndrome or have already been diagnosed with Marfan Syndrome, we have a specialty clinic housed in our cardiology department to evaluate and treat you.
22Q Multidisciplinary Clinic – Third Wednesday of the Month
If you have a confirmed diagnosis of 22q deletion or 22q duplication syndrome, we have a multidisciplinary clinic that consists of genetics, endocrinology, immunology, ENT, speech pathology and nutrition that takes place in our genetics department.
Epilepsy Genetics Clinic – Fourth Wednesday of the month
If you or a loved one has been diagnosed with epilepsy at a young age, we can evaluate you along with an epileptologist in our neurology department to determine if you qualify for genetic testing and what type of genetic testing is most appropriate for you or your family.
Frequently Asked Questions
What happens at a genetics appointment?
The geneticist and/or genetic counselor will get to know you and your family. They will ask lots of questions about your medical history and family history. The geneticist will complete a physical exam, similar to what your primary care/pediatrician does. After that they will have a discussion with you about if any genetic testing is recommended and why they are recommending that test.
What is genetic counseling?
Genetic counseling involves analyzing medical history and family history to determine if any genetic testing might be right for you or a family member. The genetic testing recommended will be explained in detail and you will have the opportunity to ask questions and make an informed decision. When the results are available, genetic counseling involves explaining how this result may impact your future health or the health of your future family members. Inheritance patterns will be explained, and appropriate supports and resources will be provided to you if needed. Genetic counseling can be provided by a genetic counselor or a geneticist.
If I come for a genetics appointment do I have to pursue genetic testing?
No. Genetic testing is a personal decision. Our expert team is here to guide you to make recommendations and make sure you understand all of your options. The decision to pursue genetic testing is yours. In some cases, genetic testing may not be recommended if there is not a good genetic test available for your symptoms.
Does everyone receive a definitive diagnosis?
Unfortunately not everyone has an identifiable genetic condition that we are able to diagnose. There are many types of genetic tests available, so the chances of finding an answer for those who want one have certainly increased over the years. We also have options to refer patients who are undiagnosed to research studies that can help to try to find a diagnosis.
Is the geneticist going to try to do research on me/my child?
No. The geneticist is there to evaluate, diagnose, and if possible, treat your child’s symptoms. Sometimes research options are available, which will be discussed in detail if there is one appropriate for your family member’s condition. There is absolutely no obligation to participate in research studies if you are not interested.
Contact Us
To schedule an appointment or learn more about genetic testing and counseling, call 954-265-6319.
