Testing times: Taking part in genetic research
After the initial shock of diagnosis, CERA’s Lisa Kearns provides information and support to people with inherited eye disease deciding whether they will participate in research.
After being diagnosed with an inherited eye disease, the decision to participate in research is deeply personal.
“Often people contact us shortly after they have been diagnosed because they have been told they have an inherited eye condition with no effective treatment or cure,’’ says research orthoptist and associate genetic counsellor Lisa Kearns.
For the past 16 years, Lisa has been the first point of contact for people who contact CERA’s Clinical Genetics Unit because they want to learn more about their condition or participate in research.
The CERA team has long been involved in research to discover genes that cause inherited eye conditions. This information is used for research led by Principal Investigator Professor Alex Hewitt of CERA and Professor Alice Pébay of the University of Melbourne who are utilising cutting edge stem cell technology and gene-editing techniques in the hope of developing new treatments.
Lisa recruits participants for research into inherited retinal disease, inherited optic nerve disease, congenital cataract, strabismus, familial retinal detachment and glaucoma. She works closely with Professor Hewitt, and honorary fellows Professor David Mackey and Dr Jonathan Ruddle.
Talking it through
Lisa says when patients decide to participate in research it’s vital they have all the knowledge they need to make informed consent.
At the first meeting, Lisa works with the participants to put together a family tree, showing how family members are related, and who else could be affected with the same eye condition.
“Often having an eye condition can be overwhelming, and this meeting provides an opportunity to talk it through,’’ says Lisa.
Patients who consent to research provide a blood, saliva or skin sample which is sent to the laboratory for testing.
“Finding the specific genetic cause of eye conditions can be useful for families but it is a complex process that requires working with experts in Australia and overseas, and sometimes the results can take a very long time,’’ she says.
“If the cause is confirmed, this can provide a more definite diagnosis, and lead to a better understanding of whether the eye condition is likely to remain stable or deteriorate.
“The inheritance pattern can be difficult to predict based on family history alone. Knowing the genetic cause can help establish the correct inheritance pattern and likelihood of children or other family members developing the eye condition.
“Some people become anxious about going blind or knowing that loved ones can be susceptible.
“Some patients describe the emotional burden or the disappointment of learning a genetic cause cannot be found or that results are inconclusive. At CERA we have a highly experienced research team able to counsel participants.‘’
Lisa says research has helped families to be referred to clinical genetics services to confirm results, have other family members tested or have informed family planning discussions. In Victoria, participants can be referred to the Ocular Genetics Clinic (OGC) at the Royal Victorian Eye and Ear Hospital.
Lisa says approval of the first gene therapy for an inherited retinal disease caused by a rare gene paves the way for other clinical trials which may come on line in the next few years.
“It is very exciting to see advances in genetics, upcoming gene and stem cell-based therapies entering clinical trial stage and beyond to potentially improve the quality of life for people with inherited eye disease,’’ she says.
“But while researchers are working hard to develop treatments and make sure they are safe and effective before they are used in humans, we need to ensure that people are making the most of the vision they still have with aids, adaptive technology and by utilising support services.
“It’s also very important for them to keep getting regular eye checks, so they can be checked for other eye conditions.’’
The Clinical Genetics Team receives funding from the Ophthalmic Research Institute of Australia (ORIA), Retina Australia, Glaucoma Australia, National Health and Medical Research Council (NHMRC) CRE Grant, Australian Stem Cell Therapies Mission through the Medical Research Future Fund and the Foundation for Children, Sydney.
This story appears in the spring 2019 issue of Visionary magazine. Download a pdf copy or subscribe to receive free in the mail.