3 Ways Genetic Counselors Provide Clarity on Eye Disease

Trained to interpret variations in your DNA, these specialists can help confirm a vision-related diagnosis and guide family members in gauging their own risk.

7:00 AM

Author | Kevin Joy

For people with inherited eye disease, genetic counselors could play an active and important role in a patient's care.

LISTEN UP: Add the new Michigan Medicine News Break to your Alexa-enabled device, or subscribe to our daily audio updates on iTunes, Google Play and Stitcher.

The specialists can review an individual's DNA following a doctor's suspicion of retinitis pigmentosa, Stargardt disease or cone-rod dystrophy, among other vision-related conditions.

The goal: to identify genetic mutations and associated inheritance patterns related to the disorder.

"We consider genetic testing to be an integral part of making a diagnosis in a patient," says Kari Branham, M.S., CGC, a genetic counselor at University of Michigan Kellogg Eye Center.

The tests, which typically involve a sample of blood or saliva, also help establish whether a recipient's first-degree relatives might be at risk — and able to consider genetic testing, too.

Although a cure or treatment for a given condition may not yet be available, the findings can often guide patients toward applicable clinical trials.

And they may reveal if a person is eligible for sight-preserving gene therapy recently approved by the Food and Drug Administration.

"We want to help you feel informed, provide support and offer resources," says Kellogg genetic counselor Dana Schlegel, M.S., MPH, CGC, who, with Branham, spoke more about their role.

They work with your doctors throughout the process

Before and after a patient's diagnosis, genetic counselors are partners in care.

In the case of inherited eye disease, a patient might first speak with a Kellogg counselor to map out his or her family history to gain a better understanding of who has already been (or believed to have been) affected by a particular condition.

MORE FROM MICHIGAN: Sign up for our weekly newsletter

Then, after a doctor's thorough review, the counselor and patient will meet again.

If a diagnosis has been made, the patient will be given the option to make an informed decision about genetic testing.

That discussion includes what might happen if a test comes back positive, negative or inconclusive.

Says Branham: "If you want to fight something, you have to know what you're up against."

We consider genetic testing to be an integral part of making a diagnosis in a patient.
Kari Branham, M.S., CGC

They advise who is — and isn't — suitable for genetic testing

The first person to undergo genetic testing in the family must already be affected with the inherited eye disease. Without a doctor's diagnosis to work with, there are too many mutations to consider.

Nobody else in the family should receive the genetic test before a patient does.

SEE ALSO: Pros and Cons of Genetic Testing: What to Know Before You Go

"You have to figure out what the genetic cause is before you can move on to testing others who may be at risk or have reproductive concerns," says Branham, who notes that potentially affected family members still might choose to take no action.

"Some people may say: 'If there's no treatment, I don't want to know.'" 

In the case of inherited disease that doesn't typically present until adulthood, parents are advised to wait until a child is old enough to make their own decision about genetic testing.

But for vision problems known to affect the very young, early insight is crucial.

Genetic testing for those who don't yet have symptoms "can be something more for medical management and social support" such as receiving in-school services, Schlegel says.

They serve as a resource and provide emotional support

Learning that you have a genetic degenerative eye disease can be emotional. It also may make loved ones fear that they're susceptible, too.

That's why genetic counselors are trained not only in distilling complex information but also in addressing personal concerns of recipients and their families.

"We'll have a conversation explaining the test results — and we also will talk about recurrence risk for other members of the family," says Branham. "We'll discuss any different treatment options available and our standard of care."

SEE ALSO: Why Does the Doctor Need a Photo of My Eye?

Kellogg counselors then send patients a personalized summary letter for future reference.

Moreover, they can suggest related Michigan Medicine services that include a low-vision support group and mental health services.

And they provide a calming, knowledgeable presence throughout.

"We recognize this is a big deal, a new diagnosis that's overwhelming and life-changing and scary," Schlegel says. "So we provide the opportunity to talk it through as well."

The Retinal Dystrophy Clinic at the University of Michigan Kellogg Eye Center provides comprehensive diagnostic and management services, including genetic counseling. For more information, call 734-232-8080 or email [email protected].

More Articles About: Eye Health Kellogg Eye Center Eye Disorders genetic counseling Genetic Testing Gene Therapy Hospitals & Centers Eye Care & Vision
Health Lab word mark overlaying blue cells
Health Lab

Explore a variety of healthcare news & stories by visiting the Health Lab home page for more articles.

Media Contact Public Relations

Department of Communication at Michigan Medicine

[email protected]


Stay Informed

Want top health & research news weekly? Sign up for Health Lab’s newsletters today!

Featured News & Stories
Health Lab
How to protect your eyes during the total solar eclipse
A Michigan Medicine ophthalmologist and retinal surgeon shares advice for viewing the total solar eclipse safely, including what to look for in eye protection.
heart organ yellow blue
Health Lab
Around 10% of deaths from coronary stenting, balloon angioplasty are preventable
Around 10% of all deaths following percutaneous coronary intervention are potentially preventable, a study led by Michigan Medicine finds.
Headshot of Shahzad Mian, M.D.
News Release
Michigan Medicine names new chair of Department of Ophthalmology and Visual Sciences
Shahzad I. Mian, M.D., has been appointed chair of the Department of Ophthalmology and Visual Sciences and the F. Bruce Fralick Professor of Ophthalmology in the Medical School and the Director of the W.K. Kellogg Eye Center
Provider takes a pulse oximetry reading from a patient's finger
Health Lab
Inaccurate pulse oximeter readings could limit transplants, heart pumps for Black patients with heart failure
Racially biased readings of oxygen levels in the blood using pulse oximeters may further limit opportunities for Black patients with heart failure to receive potentially lifesaving treatments, such as heart pumps and transplants
art work with flower circle green teal orange yellow pink on display
Health Lab
Quiet strength of nature heals those dealing with cancer
An art exhibition explores the physical and emotional complexities of the cancer journey by combining anatomy with nature.
doctor heart floating stethoscope
Health Lab
AI model predicts death, complications for patients undergoing angioplasty, stents
Researchers at Michigan Medicine developed an AI-driven algorithm that accurately predicts death and complications after PCI — which could emerge as a tool for clinicians as they determine treatment for blocked heart arteries.