How the Program Works

Applied Genetics at Columbia Ophthalmology consists of 5 phases.

Phase 1: Physician Referral or Physician Evaluation for a Referral

A physician referral is necessary for a patient to be considered for enrollment into Applied Genetics at Columbia Ophthalmology by the patient review group. Physicians or patients can email ophthalmology medical records and the results of any previous genetic testing to to request an appointment with Applied Genetics. A physician referral does not guarantee that the patient will be accepted into Applied Genetics.

If you have not seen an ophthalmologist previously or your medical records do not contain the necessary information, we will contact you to schedule an appointment with a CUIMC ophthalmologist. This physician will examine you and will provide us with the information required to evaluate your case.

Phase 2: Patient Review Group

Patient review group meets monthly to review all Applied Genetics appointment requests. The group first decides if they think the case has a genetic cause. If not, the patient is not accepted into Applied Genetics. If the patient is not accepted into Applied Genetics, the patient review group will make a recommendation about which CUIMC ophthalmologist is most appropriate for the patient to follow-up with. If the group decides the case does have a genetic cause, the patient is accepted into the program. The group then decides:

  • Which ophthalmologist should this patient be examined by?
  • Which type of genetic testing is appropriate?
  • Which family members also need to be examined and/or receive genetic testing?

If you have been accepted into Applied Genetics, you will be contacted with instructions on how to initiate the next phase of the program.

Phase 3: Pre-testing Genetic Counseling and Sample Collection for Genetic Testing

Before you have an initial appointment with your Applied Genetics-recommended ophthalmologist, you are required to have an appointment with our genetic counselor to receive pre-testing genetic counseling. At this appointment, you may provide a sample for genetic testing. We charge a non-covered services (self-pay) fee for genetic counseling and this fee does not include the cost of genetic testing.

As a result of the COVID-19 pandemic, guidelines for telemedicine have been expanded. Out of our concern for your safety, and the safety of our providers and staff, we are now offering video visits with options for remote sample collection on a case-by-case basis.

At your pre-testing genetic counseling session, you will meet with our genetic counselor for 90 minutes. She will explain the type of genetic testing recommended by the patient review group and will also explain the types of results you could receive. The genetic counselor will be able to answer your questions about how your condition could have been inherited and how it could potentially be passed on to your children. At this appointment, you may also provide a sample for CLIA genetic testing. Detailed information about Clinical Laboratory Improvement Amendments (CLIA) testing is listed below:

CLIA is a laboratory certification that means the results of testing from that lab can be used for patient care. CLIA testing results are necessary to be enrolled in many clinical trials and to receive any FDA-approved treatment. If you are asked to provide a sample for research testing, it is a supplement to CLIA testing and the results of research testing cannot be used on their own for diagnostic purposes. The cost of CLIA testing varies and depending on the type of test being performed, it can possibly be billed to your health insurance first. If this is the case, we submit your sample to the lab and the lab submits a pre-authorization to your insurance provider. Your insurance provider lets us know an estimated out-of-pocket cost for your testing. We contact you to discuss the estimated out-of-pocket cost and to ask if you would like to proceed with testing. Therefore, if we can bill insurance for your testing, the lab does not begin testing your sample until we have spoken with you about the insurance outcome and received your consent to proceed with testing.

If the testing cannot be billed to your insurance, you will need to provide a credit card that the cost of testing can be charged to or a check for the cost of testing at the time of sample collection. You may attempt to get reimbursed for the cost of testing from your insurance provider.

The details of your pre-testing genetic counseling session will be shared with your ophthalmologist, so that they may be taken into consideration for your ophthalmic examination.

Phase 4: Follow-up Genetic Counseling

Once the results of your CLIA genetic testing have been received, the patient review group meets to discuss what they mean for your care. The patient review group determines if these results indicate a certain diagnosis. They also decide if any further testing needs to be performed and if any additional family members need to be tested.

Once the plan for your care has been finalized by the patient review group, you will be contacted to schedule your follow-up genetic counseling session. At this appointment, you will meet with our genetic counselor to receive an explanation of your genetic testing results. Specifically, she will discuss what the results mean for you and your family, and you will be able to ask questions. The genetic counselor will give you instructions for how to schedule your appointment with your Applied Genetics-recommended ophthalmologist. These instructions will include a recommendation of family members who should accompany you to your appointment for an examination and/or genetic testing.

Phase 5: Development of an Ophthalmic Care Plan

At your appointment with the ophthalmologist, you will receive an examination and an explanation of what your genetic testing results mean for your ophthalmic condition. Any necessary additional testing will be performed or scheduled, and the ophthalmologist will let you know your follow-up schedule.

Please note that we may recommend you continue follow-up care with your referring ophthalmologist. In this case, you will not be scheduled with a CUIMC ophthalmologist. We will share the notes from your genetic counseling sessions and our interpretation of your genetic testing results with your referring ophthalmologist.

At this appointment, you and any family members present may be given the opportunity to participate in CUIMC research. Please note that not all research studies and clinical trials involve a treatment. The goal of many research studies and clinical trials is to collect clinical and genetic data from patients to further our understanding of disease and aide in the development of treatments in the future.

If the genetic mutation causing your disease has been identified because of CLIA genetic testing, your ophthalmologist will let you know if there are any treatments, clinical trials, or research studies that you qualify for. These could be at CUIMC or at other institutions across the country or the world. We are happy to facilitate your enrollment in any treatment, trial, or study that you meet the eligibility criteria for. If you do not qualify for any treatment, trial, or study, we will store your case in our database. We search our database frequently for genetic mutations that are the targets of new treatments, trials, and studies and we will contact you if there is anything new that you may qualify for.