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AML Genetic Testing: Could It Lead to a Targeted Treatment for You?

AML Genetic Testing: Could It Lead to a Targeted Treatment for You? from Patient Empowerment Network on Vimeo

AML expert, Dr. Pinkal Desai, outlines the reasoning behind the necessity of cytogenetics and molecular testing when managing an AML diagnosis. Want to Learn More? Download Your AML Navigator Resource Guide, here.

Dr. Pinkal Desai is an Assistant Professor of Medicine at Weill Cornell Medical College and Assistant Attending Physician at the New York-Presbyterian Hospital. More about this expert here.

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Transcript:

Dr. Pinkal Desai:         

So for patients who are undergoing molecular testing or any diagnosis of AML, both cytogenetics and molecular profiling are important, so they do not supersede each other. This is the conglomerate information that we need from the diagnosis to make important medical decisions. Usually the diagnosis would include: looking at the cells under the microscope by the pathologist; flow cytometry, which is a way to identify the subtype of leukemia; chromosomes or karyotypic analysis, which is to look at the individual chromosomes and whether they are abnormal in these leukemia cells; and the last one would be the molecular mutations, which would be single-gene profiling of the leukemia cells.

All of these are important, and it’s not that one can be omitted. They’re all part and parcel of the diagnosis of AML, and all of them should be done.  

So my advice to patients whenever this topic comes up of molecular mutations is always an unequivocal – there should be no question that this should not be done. The advice is plain and simple. This has to be done at diagnosis and, in certain cases, at relapse as well in order to figure out the best treatment possible. If they’re at a site or a clinic where this molecular testing is not available, then they should seek a second opinion to a site that would do this testing because in this day and age of leukemia, there is no treatment and diagnosis that can be done without all of these components in place.

In the old days, we didn’t have a lot of treatment in AML. It was either chemotherapy or hypomethylating agents, and that’s it. But now we have several drugs, five or six of them, that were just approved in the past two years specifically for leukemia and targeting some of these mutations. We have Midostaurin, Gilteritinib, Ivosidenib, Enasidenib, and I don’t want to go on and on about these drugs, but the most important thing is that in this day and age where you have so many drugs, how to incorporate these drugs into the management for patients, both upfront and in the relapse setting, it’s extremely relevant to do this testing, and this is highly encouraged and should be done as part of the diagnosis and treatment.

Molecular Profiling, Cancer, and You

When you get a cancer diagnosis, your doctor might, or might not, bring up the topic of molecular profiling. If s/he doesn’t, you definitely want to bring it up yourself, and here’s why: the results of that molecular profiling can significantly impact your cancer treatment options.

The conversations about this topic that I have been privy to, in both patient and clinical communities, tell me that not every doctor is aware of the full array of genetic testing options for every type of cancer. This means that patients need to fully participate in conversations about tools that put precision medicine on the table, which start with conversations about molecular profiling of your specific cancer cells. If your clinical team doesn’t bring it up, you need to bring it up.

Another conversation gets opened when you bring up molecular profiling for your cancer: the one about insurance coverage. Genetic testing is less expensive now than it was ten years ago, but it still carries a pretty hefty price tag.  There isn’t a lot of hard data on the cost of specific tests – like much of healthcare, it seems to be a case of “if we tell you, we’ll have to kill you” when it comes to price tags before purchase – but commercial tests like Caris Molecular Intelligence (formerly Target Now) (priced at $5,500) and OncInsights (priced at $4,000) are pretty steep, particularly if you have a high deductible plan. If your health plan covers testing you’re, well, covered. If not, you’ll have to pony up some serious coin to get your cancer’s molecular profile.

Here’s where the power of community in cancer comes into play. If we, as people dedicated to transforming cancer treatment – patient, clinician, policy wonk, family caregiver, or all of the above – work together to push for full coverage of molecular profiling as both a standard of care for cancer treatment, and a 100% covered service to cancer patients, we’ll start seeing some “cancer moonshot” promised become reality.

Since medicine is a science, and scientists want proven data, here are some tools to use to advocate for making molecular profiling standard, and covered. From the Journal of the National Cancer Institute in 2011, Ready or Not: Personal Tumor Profiling Tests Take Off; from the Journal of Clinical Medicine & Research in 2004, The Promise of Molecular Profiling for Cancer Identification and Treatment; from Medscape in 2014, Can Molecular Profiling Lower Cancer Costs?

If you’re dealing with a cancer diagnosis right now, and want to bring up molecular profiling with your clinical team, here are the key questions to ask:

  • What are the benefits of molecular profiling for my specific type of cancer?
  • Is my cancer tissue a good candidate for molecular profiling?
  • Will molecular profiling improve my treatment options?
  • When should my cells be tested?
  • How much will testing cost, and will my insurance cover it?
  • What if I’ve already had treatment — does molecular profiling give me any options?
  • What are the risks of testing?

The answer to your cancer lies in its DNA. Don’t miss a chance to survive, and thrive – put your DNA to work in your cancer treatment.