By Robert A. Poarch
Chad Haldeman-Englert, MD, a clinical geneticist with Mission Health’s Fullerton Genetics Center, answers some questions about the diagnosis and management of hereditary disorders with genetics.
What training and education do you have?
I completed medical school, a residency in internal medicine-pediatrics, then a fellowship in clinical genetics. I also spent time doing genetics research during medical school and a fellowship.
How does genetic testing work? Do you take blood and/or saliva?
Prior to any genetic testing, patients are referred to our clinic for an evaluation that includes a discussion of their personal and family histories, and in some cases may include a physical examination. Following this evaluation, genetic testing may be recommended, and if the patient is interested then a sample for the testing may be done either with a blood, saliva or a cheek swab.
What other types of people on your team do you work with?
We are a team composed of two board-certified clinical geneticists, six board-certified genetic counselors and a licensed clinical pharmacist trained in pharmacogenomics.
What is personalized medicine?
Personalized medicine focuses on using genetics to predict how patients will respond to a medication. It has the potential to replace the trial-and-error approach to drug treatment to manage cancer and other chronic diseases. Personalized medicine testing provides patients and their healthcare providers with information that could help reduce bad side effects from medications and increase medication effectiveness. Patients can be referred to our clinic and meet with a pharmacist who is specially trained in personalized medicine.
How is what you do different from direct-to-consumer genetic testing?
Genetic testing performed through our clinic is ordered directly by a physician and is performed by a certified laboratory. Decisions about treatment may be based on this testing. Direct-to-consumer genetic testing is where a patient has the testing done on their own through a laboratory that may not be certified. While it may provide some information on a person’s health, treatment decisions should not be made based on this testing. If there is a concern about a specific medical condition based on this testing, then the result should be confirmed by a certified laboratory.
What types of genetics services can you offer people who are sick?
We may see patients quickly if they have had a recent diagnosis of breast cancer, as to knowing whether or not they carry a genetic change may alter their cancer treatment. We also see newborns if there are birth defects with concern about a possible genetic condition.
What genetics services does the Fullerton Genetics Center offer people having a baby?
Our genetic counselors work closely with maternal fetal medicine providers to assist with identifying and providing information on genetic conditions for a family during a pregnancy. Once the baby is born, if there are concerns that the baby may have a genetic condition, it is possible that the baby may be seen by a geneticist for further evaluation and possibly have genetic testing to identify a cause to the baby’s symptoms. We are also in the early stages of a telemedicine genetics consult service to additional neonatal intensive care units around the country.
What is the biggest misnomer about genetic medicine that you would like to clear up?
While genetic testing may be more affordable now than in the past, it is not recommended for all patients and may not identify a cause to a patient’s symptoms.
Why is it important to our community to have access to the Fullerton Genetics Center?
We are a busy clinic that evaluates patients of all ages for the possibility of having a genetic cause to their symptoms. Genetic conditions can affect anyone, and having the expertise of our geneticists, genetic counselors and pharmacist is a great asset to our community.
What do you see for the future of medical genetics?
I would like to see more treatments for genetic conditions become available, and that these be based on a person’s particular genetic makeup.
What motivated you to pursue a career in medical genetics?
Genetics is the best field in medicine! We see many complex patients in order to help them identify a cause to their symptoms. I enjoy how our specialty is able to combine the classic aspects of medicine (history and physical examination) along with modern technology (genetic testing) to make diagnoses for patients. I feel a great degree of satisfaction in being able to evaluate and diagnose why someone’s symptoms are occurring to them at the level of their DNA and, if a cause is identified, then providing information to help them understand their condition better so they can be more empowered with their treatment.
Chad Haldeman-Englert, MD, is a clinical geneticist with Mission Health’s Fullerton Genetics Center.