Linda Randolph, MD
Children's Hospital Los Angeles Pediatric Medical Geneticist
The genes children inherit determine everything from their height to
their hair color. But sometimes, a child’s genetic code also contains
hidden abnormalities that can cause an array of health issues, such as
developmental delays or physical or mental illness.
As head of the Division of Medical Genetics at Children’s Hospital
Los Angeles (CHLA) and a physician at the Children’s Hospital Los
Angeles-Santa Monica outpatient care center, below is how a medical
geneticist works “like a detective” to diagnose genetic syndromes – and
put children on the path to better health.
What is a medical geneticist?
Many people think geneticists only work in laboratories, but that’s
not true. Medical geneticists like myself see patients just like other
doctors do. Just as a cardiologist treats patients with heart disease, a
medical geneticist is a physician who specializes in diagnosing,
treating and supporting patients with genetic disorders or birth
How old are your patients?
Medical geneticists see patients of all ages, but here at Children’s
Hospital Los Angeles, we focus on children. Most of our patients are
quite young, including babies, but we see older children and teenagers,
Why would a child need to see a medical geneticist?
Children are typically referred by their pediatrician or another
specialist. They’re referred for all kinds of reasons: failure to
thrive, developmental or speech delays, unusually tall or short stature
or even atypical physical features, such as ear abnormalities, unusual
birthmarks or low muscle tone. It’s our job to see if the underlying
cause of those issues is a genetic disorder.
How do you diagnose a genetic disorder? Is it just a blood test?
If only it were that easy! In reality, we’re a lot like detectives –
painstakingly searching for every possible clue as to what’s causing a
child’s symptoms. It’s challenging; there are literally thousands of
genetic syndromes, and a lot of them can look similar.
That’s why our consultations are quite comprehensive. We take a
detailed patient history, including a prenatal history – medications the
mother took during pregnancy or illnesses she had – and create a
three-generational family tree called a pedigree. We also do a thorough
physical exam. Even small details, such as the size of a child’s hands
and feet, can provide big clues.
Do you do genetic testing?
We often recommend it based on what we uncover during the
consultation. At the end of that appointment, we discuss our findings
with the parents and make recommendations for further testing. That
testing could be genetic testing, an MRI or X-ray, or an eye exam – or a
combination of all those.
Are there downsides to genetic testing?
The tricky thing is that results are sometimes uncertain, or they
include information about genetic irregularities that science doesn’t
yet know how to interpret. That can create anxiety for the family. Our
genetic counselors and physicians spend a lot of time carefully
explaining test results to parents so there are no misunderstandings.
Since most genetic syndromes don’t have a cure, why is it so important to accurately diagnose them?
There may not be a cure, but even in the worst cases, there’s always a
care and treatment plan. There’s always support; there are always
services. Treatments can range from enzyme replacement therapy – which
can be almost as good as a cure for certain conditions – to vitamins to a
special diet to certain therapies.
In addition, one of the biggest benefits is knowing what
complications a child is at risk for either now or down the road,
because of that diagnosis, such as heart or kidney disease.
Some people might say, ‘I’d rather not know.’
It’s always better to know. Knowledge is power. If you know a child
with a given genetic disorder is at risk for kidney problems, then you
can screen for those problems and catch them before they’re too
I recently saw a child where I recognized signs of a genetic
condition called Noonan syndrome, and we tested for it. Well, this child
needs heart surgery, and people with Noonan syndrome have a high risk
of surgical complications. If we know that risk in advance, doctors can
take preventive steps to ensure a safe surgery.
That’s what’s rewarding for me as a medical geneticist. A diagnosis
isn’t just a name. It opens the door to giving a child an opportunity
for better health and a better life.
Linda Randolph, MD, is head of CHLA’s Division of Medical Genetics
and a staff physician at Children’s Hospital Los Angeles – Santa
Monica, which is located at 1301 20th St., Ste. 460, Santa Monica. For
appointments, call 310.820.8608. For information, go to www.chla.org/santamonica.
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