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Today, we’re discussing the news about actor Chris Hemsworth and his genetic test results. Hemsworth announced that he is taking a break from acting after learning that he has a heightened risk of developing Alzheimer’s disease. Our guest today is Ani Rostomyan, a nutrigenomics pharmacist, who will provide some insight and context to the news, and help us understand what this means for the general public. We’ll also discuss the importance of proper education and understanding when it comes to genetic testing and the potential impact on an individual’s mindset, mental health, and personal life.

Ani Rostomyan is a nutrigenomics pharmacist.

She shares her story and discusses her KevinMD article, “In light of Chris Hemsworth’s APOE news: Don’t panic.”

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Transcript

Kevin Pho: Hi, and welcome to the show. Rate and review at KevinMD.com/rate. Subscribe at KevinMD.com/podcast. Today on the show, we have Ani Rostomyan. She is a nutrigenomics pharmacist. Her KevinMD article is titled “In light of Chris Hemsworth’s APOE news: Don’t panic.” APOE is the gene that’s associated with an increased risk factor of Alzheimer’s disease. Ani, welcome to the show.

Ani Rostomyan: Thank you, Doctor. Thanks so much for inviting me, and I’m really humbled to be here.

Kevin Pho: So we’ll get into your article in a little bit, but first off, briefly share your story and journey to where you are today.

Ani Rostomyan: Absolutely. So I have been a clinical pharmacist for many years. I’ve worked in ambulatory care for probably six-plus years, and patient care is my passion. Pharmacy is my passion. I love what I do. In recent years, I got very much involved in precision medicine, and I could surely say to our community that the precision medicine era has begun, thanks to the Human Genome Project, which was completed in 2003. We are actually considering genetic differences now when we are prescribing therapies, and genetics is now considered one of the factors to predict drug response.

I’m very proud to be living in this day and age, when I can actually help physicians and help my fellow pharmacists to identify the drugs and perform the pharmacogenomics and nutrigenomics testing, to identify how else we can prevent adverse drug events. Because at the end of the day, our mission is to cause less harm, prevent medication-related adverse events, and provide better outcomes for our patients. So that’s my story in short. That is where I am now: After ambulatory care, I’m now fully involved in precision medicine.

Kevin Pho: All right. So tell me more about the intersection between genomics and pharmaceuticals. What are some typical cases that clinicians would consult you on? What are some common scenarios that you would encounter?

Ani Rostomyan: Absolutely. There are more than 200 medications labeled by the FDA. Absolutely, there are many more than that, but at the moment, we have more than 200 medications for which the FDA recommends, and for some of them even mandates, performing genomic tests before prescribing. One of the core examples would be a medication for epilepsy, carbamazepine. Another is clopidogrel, for a lot of cardiovascular-related situations.

But one of the core examples I want to bring out today is opioids. This is a national epidemic we have in our country, and opioids are heavily involved in how people respond, not only due to their age, gender, and ethnicity, but also due to genetics. What we’ve seen in recent years, in more and more research, is that sometimes we falsely label our patients as becoming addicted and becoming addicts to opioids, but in reality, it might even be their genetics: the way they’re metabolizing certain opioids, consequently having a poor or even a stronger drug response. In some situations, when they’re ultra-rapid metabolizers, they may even metabolize the medication much faster than they should, and we see adverse effects. We see a lot of patients seeking more and more doses. So I think the biggest example at the moment that we have to address in our country is especially codeine-containing medications. Why not include genomic testing before prescribing, to avoid overdoses in some instances?

So that was the biggest example, but there’s so much more. Especially nowadays, we have the Plavix example, where clopidogrel is heavily involved in genomic predisposition in South Asian Pacific Islanders, where the label of the medication says to absolutely perform genomic tests before prescribing. Some of the states, specifically the state of Hawaii, got into big trouble with the manufacturer, where the manufacturer was forced to pay, what, $800 or $900 million, because they failed to test patients on that specific medication and perform genomic tests, and some of the patients had recurrent heart attacks.

So I think it’s so important nowadays to consider a genomic factor, just the same way we consider kidney function, liver function, age, gender, and ethnicity. That’s one of the tools we now have as pharmacy practitioners to help physicians provide more meaningful patient care.

Kevin Pho: Now, how can one go about testing for genomic predisposition for certain medications? So if I’m a primary care physician and, like you said, I wanted to test the genomic background because I want to prescribe Plavix or an opioid, what’s the next step?

Ani Rostomyan: Truly, there’s a variety of ways to approach it. It’s also about finding champion physicians. I would always reach out to champion physicians who are very forward thinkers, who think, “What can I do to help my patient in a more meaningful way?” But testing in a reactive situation is not very prudent, so we are always preaching and promoting proactive care and preemptive medicine. If you have a cardiovascular situation, and you have a patient who may be prescribed that medication, it’s always good to have the test, because the turnaround time is about five to seven business days in the best situations. But in reactive care, we kind of hope and pray that the patient will not fail the medication. So preaching preventive medicine, acting before the situation happens, is the case. But again, in emergency care, and I’m sure you know best, there’s no time to think, “Oh, let me think of the pharmacogenomic testing.” The patient had a heart attack. So this is all about thinking ahead of time about what could happen, so we prevent the adverse drug reaction.

And most importantly, the reason I wrote the article in one sitting: When I read the news about Chris Hemsworth, I was not really happy about it, because prudent use of genomic testing in a clinically supervised environment is what I preach. We can’t just randomly assign patients and test various gene biomarkers and create more mental health and psychological distress for patients where it wasn’t needed, right? There was no indication for use. That patient probably had no family history of Alzheimer’s disease. He’s a young, productive, healthy individual. There would be no need for that test unless there were really big factors prompting the physician to perform it.

So that was the reason I wrote it: to spread awareness that even with advancements in science, health care, and medicine, prudent use is the number one thing that we have to propagate and push for. Not just because it’s a fancy new test and everyone should get it done, but based on whether the patient will benefit from the after-effect and the knowledge of that. Because, right, he took some time off from acting. What if it was his most productive years? And without any history, why would he need to do it? I’m sure there’s more to it, but this is the reason that, as a precision medicine pharmacist, I wanted to put in my opinion that sometimes more is not good. More information is not a good thing.

Kevin Pho: Let’s talk about that. OK, so I think that he disclosed that he took this test on one of his Disney+ shows, right? APOE, that’s a gene that’s associated with an increased risk of Alzheimer’s disease. Now, for those who aren’t familiar with what specifically happened, just go more into your article.

Ani Rostomyan: Absolutely. So the APOE gene is quite popular nowadays. This is apolipoprotein E. There’s a variety of alleles, a variety of forms of it. Number four is the one that’s implicated in the research about Alzheimer’s disease, but it really applies to late onset. We need to be very clear about LOAD, late-onset Alzheimer’s disease, where its predisposition is not predetermination. The majority of patients who are actually diagnosed with Alzheimer’s disease at a later stage in their life may not even carry that allele. So it’s kind of interesting how we approach the information.

Now, when we talk about the rarest version, the early onset, which is quite rare, about 10 percent of patients with Alzheimer’s disease will have the early onset. There are other gene markers that are very interesting and really important in testing, because if you have a patient in their 30s showing signs and symptoms, that’s something more important to test.

But with late-onset Alzheimer’s disease, I really wanted to touch on epigenetics, where our lifestyle predetermines our disease predisposition. It’s not only having the genes or the mutations, like on chromosome 19, especially in chronic disease states as well. It’s our lifestyle and our environmental factors. There’s much more to it than just having the predisposition to the disease. Epigenetics is, again, cutting-edge science that tells us that we all carry those disease-causing genes. We all carry them, but whether we choose to live a healthier life or a life full of unhealthy habits, unmanaged weight, blood pressure, lipids, and glucose, that’s what determines the progression of the disease. Not just having the gene and saying, “Oh, you know what, I can’t do anything about it. Now I have the genetic predisposition.”

So I wanted to shed some light on how there’s so much more we can do as patients, and so much more we can do as clinicians to educate our patients that your lifestyle is what matters. As Dr. Bruce Lipton mentions, and he’s the founding father of epigenetics, it’s not the genes that exist in our bodies; it’s the lifestyle that turns these switches on and off. The more we know nowadays, living in a chronic disease epidemic in our country, there’s so much more power for patients in telling them that you can change your life around. It’s not just what you have as a test result. So that was the mission: to advocate for patients who would get distressed and upset about the situation, saying, “Why did you even order that test for me?”

I want to mention something very important for the clinical community: The APOE test is not really routinely recommended by physicians who manage Alzheimer’s disease. And again, as a pharmacist, I have to say that there are very few medications on the horizon to help patients. It’s very sad that we don’t have much to offer patients, but imaging and a variety of other cognitive tests are pretty much the clinical, I guess, criteria to diagnose, not the genetic test, at the moment.

Kevin Pho: Now, what do you think about those commercially available genetic tests that are often marketed? Some patients come into my exam room and ask me, “Should I order these tests?” Or in a lot of cases, they ordered it themselves, and they come to me with results. What’s your opinion of those commercially available genetic tests?

Ani Rostomyan: That’s a fantastic question. As a pharmacist in precision medicine, I highly recommend against self-testing. The DTCs are not something my patients should go and read the information from without the clinical background. There’s a very conflicted opinion on the quality of the tests and whether the biomarkers are showing true clinical validity of the outcome, because we can test anything we want, but what are the studies showing? Once you know that information, what do you do to live your life without that disease?

So absolutely reach out to professionals. I highly recommend against those $99 or $75 genomic tests that tell you that you have the Alzheimer’s disease risk. There are a lot of other ones on the market, and the quality may not be the same. I don’t want to go against anyone and say, “Don’t use them,” but again, reach out to a health care professional who’s specialized in it and who can actually give you good information on what you do with that information.

Some of my patients, actually, with pharmacogenomics testing, told me that they did the test on their own, they got very scared, and some of them stopped their medications based on the test, on their own. So the scary situation comes in that a patient may change their own therapy based on that. So that’s very, very big advice to whoever is listening: Do not go for those tests. As a pharmacist who’s in that practice, I recommend against routine, unnecessary use of genomic testing.

Kevin Pho: On the flip side, let me ask you: Are there clear-cut cases where patients should consider genomic testing? And if so, what are some examples of clear-cut cases?

Ani Rostomyan: Absolutely. That’s a fantastic question. In certain ethnicities and certain clinical situations, there are medications that have very high evidence, high-level evidence showing that genomic testing is absolutely needed before starting the therapy. I don’t want to name the medications, but again, even with carbamazepine, right, we know several patients of Asian descent, SJS, TEN. There are situations where we can save lives by providing the genomic testing. It’s not really embedded in clinical practice at the moment. Working as a pharmacist, I’ve seen a lot of patients on that specific medication where the doctor mentioned, “If you develop a rash, stop the medication.” That was not enough for me. I would probably say, “Let’s not wait until the rash happens. Let’s absolutely test.”

Or abacavir, the antiviral medication. It’s very important that that test is performed, because we have evidence, and we need to practice by clinical evidence that shows reliability, that shows that, yes, if the patient is using the medication, the genetic testing is absolutely needed. Another example would be the anticoagulant warfarin. An absolute genomic test is required before we start therapy. So in those cases, it’s a no-brainer. We absolutely need to use the advancements in science and medicine. But just routine tests for healthy individuals who are not taking any medicines, I kind of recommend against it.

Kevin Pho: Now, in the primary care setting, how do we go about ordering a genomics test? Is this something where we have to find a precision medicine pharmacist like yourself? Do we go to a genetic counselor who will then order the test? What’s a typical workflow for that?

Ani Rostomyan: That’s a great question, because some institutions, like St. Jude Children’s Research Hospital, already have it embedded in their practice, because they’re so focused on oncology, and the scientific evidence in oncology for genomic testing is quite high. So that’s the number one pool of evidence. In the rest of the situations, we’re still in progress, advocating for our profession and saying that every hospital needs a pharmacist who is specialized in pharmacogenomics, to route the information in the right direction.

Sometimes I see that some institutions may have clinical decision support tools embedded in their software, where when physicians start prescribing the medication, an alert pops up that a pharmacogenomics test is required, because an actionable drug-gene response may be of very high importance. But at the moment, the field is new. There’s a lot of advocacy we do in states to at least have some insurance coverage for patients for the testing, because the test is very expensive, and among a lot of underserved populations, specifically in California, we have quite a high percentage of people who are unable to afford the $350 test.

We keep advocating for it, because I just had a patient last year whose Medi-Cal, which is the California state Medicaid, covered the pharmacogenomics testing, and he had zero co-pay. He was happy, because we had a significant list of trial and error. He was a psychiatry patient. So in those instances, where it’s absolute medical necessity, they cover the test. But generally, it’s a lot of work. We have to advocate statewide and nationwide to get where we have to be.

Kevin Pho: And my final question: What are some of your take-home messages that you want to leave with the KevinMD audience?

Ani Rostomyan: Oh, fantastic question. I think my biggest message to the clinical community is that I have great respect for physicians in this day and age who worked and work in these unimaginable conditions. I want to give my greatest shout-out to the champion doctors who survived these crazy times over the last two and a half years.

I think that the practice of medicine is changing. We’re a good team. We’re an interdisciplinary team that is working around the patient. Things are changing, and science is evolving. We have to really work together on some of the sad situations, especially my passion, the chronic disease epidemic, to educate our patients and change their mindset. I feel like pharmacists are good team members in that realm, where we’re another route of information, and we can teach our patients. The good things are yet to come, but we have to stay strong, because challenging times are not over yet. So my message is that we’re one team. We work together and revolve around the patient to make them healthier.

Kevin Pho: Ani, thank you so much for sharing your time and insight, and thanks for being on the show.

Ani Rostomyan: Thank you, Doctor. It was a pleasure.