Genetic Counseling

Genetic testing has opened the floodgates to a wealth of disease understanding. But genetic testing can be difficult for patients to access – and the results can be challenging for clinicians to interpret.

Here, we speak with Ellen Matloff, Founder of My Gene Counsel, about the past, present, and future of genetic counseling – and how pathology is involved.

What is your background and how did you get into genetic counseling?
 

After graduating in biology, I went on to gain a master’s degree in genetic counseling, and started my career in rare adult and pediatric disease. After two years, I moved to the Yale School of Medicine in Connecticut to establish their first program in cancer genetic counseling, running it for the next 18 years. During that time, I witnessed an explosion in the field of genomics – it grew from an occasional test for a handful of patients with rare disease to a commonplace technique with wide-ranging applications in oncology. Not only was it used to guide surgical and radiology decision making, but also to inform risk management for patients’ families.

Following that revelation, I left academia to start My Gene Counsel.

How would you describe genetic counseling to the uninitiated?
 

Genetic counseling has been around for 50 years or more. In the early days, most counselors worked directly with clinicians and patients in hospitals or clinics. They would advise clinicians on which genetic tests might be of most benefit to each patient and how to best incorporate the test results into the patient’s treatment plan. And they would counsel patients to help them understand the testing and the results.

At the start of my career, I worked with children and adults with genetic conditions, such as Down syndrome, cystic fibrosis, or Fragile X syndrome. I would help diagnose their condition and help them access appropriate support services and resources. Then I could use test results to advise the family members on the chances of having future children with the same condition.

After I moved into cancer genetics at Yale, I would see patients who either had a personal history or a family history of cancer and determine if they carried a germline genetic mutation and what that meant for their family members.

More recently, genetic counseling has greatly expanded its scope. Not only do we find genetic counselors in many different specialties within the healthcare system, but also in specialist genetic testing companies, pharmaceutical companies, health insurance, regulatory teams, venture capital, private equity, and genomic technology companies. Some work in patient foundations or other types of research foundations, in direct research, or in digital health companies.

How does genetic counseling contribute to the field of personalized medicine?
 

Many precision medicines now have FDA authorizations across oncology, rare diseases, and other indications. And we’ve seen an exponential growth in the cell and gene therapy space for potentially curative treatments. As a Forbes contributor, I interviewed the first patient to receive gene therapy for sickle cell disease; she no longer has symptoms of the condition. It’s mind blowing!

Many new technologies are now being driven by genomics. In the oncology space, these are reliant on techniques like cell-free DNA testing and minimal residual disease testing, which are complex and evolving. And the skill sets of genetic counselors – a deep understanding of genomics and the related technologies combined with the communication skills to discuss these issues with patients and clinicians – can really help the field move forward.

How can pathology contribute to this effort?
 

In the United States, every single patient with ovarian, pancreatic, or metastatic prostate cancer, and many patients with breast and colon cancer, are candidates for genetic testing. They qualify for germline testing to help guide their surgical and radiation treatment pathways. And the results could also be helpful – or even life-saving – to their family members. What’s more, it could identify the patient as a candidate for precision medicine. But what if they don't receive that genetic testing? 

I believe that the pathologists are actually the linchpins of the entire process. They know who has been diagnosed with these cancers and, as part of a system-wide effort, they can feed them into a workflow such that every single patient diagnosed with pancreatic cancer, for example, is offered access to genetic counseling information on their phone or device. The patients would then be aware of their option for genetic testing and receive up-to-date, easy to understand genetic counseling information.

What is the current situation with access to genetic testing?
 

What we find is that many of these eligible patients in the United States – particularly those who are not white and not wealthy – never learn of their option for genetic testing. And for those with a new diagnosis of advanced cancer – as we see all too often with pancreatic and ovarian disease – the option of genetic testing may be regarded as very low priority by the clinician. Those patients may not ever be offered this option.

If we can get pathologists on board with automatically feeding eligible patients into a loop to make sure that they learn, along with their clinicians, of the genetic testing option, that is how we get entire health systems on board.

What needs to change to improve access to genetic testing?
 

Amazingly, here in the United States genetic counselors are not recognized as providers of genetic counseling by CMS, Medicare, or Medicaid. This presents a huge barrier. If these people – who have graduate degrees in genetic counseling and continue ongoing education in the field to maintain certification – are not recognized as the providers of genetic counseling, they cannot be reimbursed adequately. And that means that a healthcare system may not employ as many genetic counselors as it should because payers will not reimburse them. Or, in some instances, a system might replace genetic counselors with other health care providers, who can bill CMS, even if those providers are not experts in genetics.

That's the first thing that needs to change here in the United States – we desperately need qualified genetic counselors to be recognized as providers of service by the funding bodies. This change would result in cost savings because other providers of genetic counseling, like physicians, charge more for their services than a graduate-trained genetic counselor. There would also be cost savings as a result of the reduction in errors.

Though there will be a new CPT code that goes live January 1, 2025, that will allow genetic counselors more reimbursement, Medicare and Medicaid still won’t recognize genetic counselors as providers. Consequently, many other payers won’t recognize them either. That needs to change – and it needs to change now.

What errors can occur in genetic testing?
 

I've been the senior author on a series of papers showing what happens when genetic testing is mis-ordered or when the results are misinterpreted. The results are breathtaking! For instance, we reported cases of healthy patients having parts of their body removed preventatively, and then learning that they didn't carry a pathogenic mutation.

These mistakes hurt patients, they are expensive for payers, and bad for clinicians, hospitals, and healthcare systems. And in many of these cases, we found that no genetics professional was involved in the testing process.

What is the future direction of genetic counseling?
 

As noted, I would like to see genetic counselors recognized as the providers of genetic counseling services and I would like to see more health systems hire and set up teams of genetic counselors. But because of the widening guidelines for candidates for genetic testing, those genetics professionals will also need embedded digital tools in their electronic medical records systems to help them identify all the eligible patients. Alongside this, the patients will need digital tools to make sure that they can access the information they need in a safe, equitable way.

Ideally, the genetic counseling process will not end when the patient gets their test result, which is what happens now. Digital tools will allow genetic counselors to keep in touch with those patients and providers over time. In that way, if the guidelines change, a new precision medicine becomes available, or we need to collect outcome data, we can maintain that relationship with the patient and the provider. I dream of a future where precision medicine can be a lifetime game instead of a “one and done.”

Do you anticipate a future in which genetic testing will move into mainstream medicine?
 

I do think that day will come. There are already some genetic counselors working in primary care, which is very exciting. But I would like to see genetic testing and counseling used more widely for all patients in different subsets of disease who need these services. I would eventually like it to be a routine part of primary care medicine.