Eyes on genetic testing: Uncovering new answers
Genetic testing uncovers key answers1-4
Detects disease
More precisely diagnoses inherited retinal diseases (IRDs) and predicts prognosis
Supports planning
Provides valuable insights that support life and family planning
Empowers patients
Encourages patients to know their condition and increases desire to participate in research
Expands access
Can help determine eligibility for clinical trials and future treatments
Relieves anxiety
Can help relieve the anxiety associated with an unconfirmed diagnosis
Identifies risk
Identifies additional family members who may benefit from testing
Genetic testing put us on the map. It validated what we were experiencing and gave it a name. It was like we’d been discovered.
– Lisa, living with an IRD
of people with IRDs view genetic testing as a positive step forward in their patient journey1*
*Data from a 2013 study were collected from 200 IRD patients using a 5-point Likert scale telephone questionnaire.
Stay up-to-date with the most recent clinical trials for IRDs
Extend genetic testing beyond immediate family
Genetic testing is important for diagnosing potential IRDs and identifying inheritance patterns. It helps guide care, assists in future family and life planning, and uncovers possibilities for ongoing clinical trials and potential emerging treatments. It can also help provide insight into future diagnosis.1-3
There is a growing need to extend genetic testing beyond immediate family members, as extended family members may also be impacted. This reinforces the need for more comprehensive genetic testing strategies.2,5
Steps for genetic testing
Genetic testing process overview
Discussing
results
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Clinically examine your patient and obtain their full medical and family history6
- Patient may have a family member with a positive genetic test result. If possible, order the same genetic panel as their tested family member
- Patient may want to confirm research lab results
Consider partnering with a genetic counselor or genetic specialist to discuss the risk of an IRD and possible genetic testing options with your patient. Counselors are valuable partners to help determine the appropriate test for an eligible patient to get an accurate diagnosis.2,6
Order the appropriate genetic test for patients if they have a family member with an IRD or if their clinical diagnosis or phenotype is suggestive of a genetic disorder, such as2:
- Achromatopsia
- Best disease
- Gyrate atrophy
- Choroideremia
- X-linked retinoschisis
If you have limited access to ordering a genetic test, refer your patient to a specialist.
Collect a saliva or blood sample and send to a special testing lab. Results are usually ready in a few weeks.9
Discuss the results with your patient. Consider partnering with a genetic counselor to help explain and interpret the results to your patient and talk about next steps, including potential treatment options and ongoing or future clinical trials.2
Disclaimer: Genetic test submission and result reporting may vary based on location. Please follow the appropriate local guidelines when ordering a genetic test.
Sponsored,* no-charge genetic testing is available†
Genetic testing may be available through your patients’ insurance plans. Also, sponsored, no-charge genetic testing may be available to many in need, thanks to initiatives such as:
My Retina Tracker® Genetic Testing Program‡
*This is a sponsored testing program. Third parties and/or commercial organizations provide financial support allowing for sponsored, no-charge testing programs. Tests and services are performed by genetic testing labs. Healthcare professionals must confirm that patients meet certain criteria to use this program.
†Available to individuals who meet the program’s eligibility criteria. Additional services may incur costs.
‡Listed program is US only.
3 more reasons to consider genetic testing
Increasing affordability
In the last number of years, genetic testing has become increasingly affordable. It may be available at reduced cost.3
More specific gene panels
Through leveraging panels made specifically for IRDs, genetic testing can help identify the genetic variant in up to 76% of people with an IRD.2
More genes being discovered
To date, more than 270 IRD-related genes have already been identified and are continually being discovered and added to panels. It may be worth retesting appropriate patients.
For example, evolved genetic testing panels include the purine-rich repetitive ORF15 region of the RPGR gene.5-8
Patient benefits from genetic retesting
Genetic retesting helped identify a genetic mutation in an IRD patient with inconclusive results.2
Emerging breakthroughs in IRD therapy
Stay informed on how the latest trials integrate vision-guided mobility assessments and patient-reported outcomes to better assess the impact of IRDs.
Connect with a genetic counselor
Connect with a genetic counselor or specialist in your area..
Patients benefit from early genetic testing and retesting
Patient case study: Lori, 23-year-old female, referred for genetic testing for retinitis pigmentosa (RP)
Presents with complaints of: Reduced visual acuity in both eyes; patient is currently seeing an IRD specialist
Impact on functional vision: Dramatic impact on work and social relationships
I can no longer go to the movies with my friends and family. I can’t safely navigate in a theater to find my seat without being a burden to others.
– Lori, living with an IRD
Medical and family history:
- No systemic illness
- Mother has vision loss, but cause unknown
- Genetic testing previously performed 5 years ago but results were inconclusive
Eye exam and imaging:
- Clinically diagnosed as RP:
- Bone spicules pigmentation revealed by fundus examination
- Visual acuity: 20/40 OD; 20/30 OS
- Visual field: progressive concentric narrowing to the central 20 degrees, both eyes
Genetic test:
- Retested in a different lab with an inherited retinal disease (IRD) panel that includes a broader range of gene variants
- Positive with pathogenic variant in RHO (c.403C>T, p.R135W)
Final diagnosis: Autosomal dominant RP due to RHO mutation
Discussion notes: Prognosis explained, implications for family genetic inheritance discussed, information on relevant clinical trials shared. Follow-up scheduled.
Key takeaway: Genetic testing and retesting is important for patients with inconclusive results, or for patients whose original genetic test was conducted more than one year ago. Genetic testing may allow eligible patients and their family members access to approved gene therapies or clinical trials.
Disclaimer: This case study is based on a real patient with changes made for privacy considerations.