Episode 28: Medical Genetics

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Episode Summary:

Genetics is a growing part of health care and is used to identify heritable genetic variants that increase the risk of certain diseases and conditions, including some types of cancers. Among other things, learn why breast cancer-related variants are also related to prostate cancer, and why you should be leery of direct-to-consumer tests for heritable disease risk indicators.

Episode Guest:

Gail P. Jarvik, M.D., Ph.D., Endowed Chair in Medicine and Genome Sciences, and Professor and Head of Division of Medical Genetics, University of Washington, Seattle WA.

During This Episode We Discuss:

  • What do we mean by Medical Genetics? Multiple aspects to this science.
  • What can an examination of your genetic history accomplish?
  • Who should have genetic testing?
  • What type of cancer history should prompt a visit to medical genetics?
  • The role of a genetic counselor.
  • Do you know your family history?
  • What can be done if a risk is identified?
  • What about the genetic tests identifying ancestry/family descendants? 
  • Can genes be manipulated?
  • When genes go wrong, what happens?

Quotes (Tweetables):

“I would hope to see more people being screened for these things that are high penetrance. About 3% of the population would have what we call actionable genetic changes), something that we could do something to protect your health.”

“The national precision medicine program called ‘All of Us’, which is enrolling nationally, you can go online to their web portal, and if you’re one of the people selected, they will be generating and sharing the genome information (for free) that they find with the participants.”

“ I am very leery of direct-to-consumer genetic testing. I think people often don’t understand what they’re buying, and it can be a danger to people because we have had patients who thought they were tested for something that ran in their family and they were not.”

Gail P Jarvik, M.D.

Recommended Resources:

  • The National Association for Genetic Counseling website
  • The Undiagnosed Disease program of the NIH
  • Local Departments of Medical Genetics
  • The National Precision Medicine Program 
  • The All of Us Program

Episode Transcript: 

Dr Richard Pelman (00:07):

Baseball game, day in a park with friends and family, fishing in a remote stream, work, travels, providing for loved ones, or heading out for adventures, whatever you do, whatever you enjoy, you need your health. The Original Guide to Men’s Health, as presented by the Washington State Urology Society, to help take you through the steps necessary to get the most out of life. If you have invested in a retirement plan for your future, why not invest in your body, after all it makes better sense to retire healthy and enjoy your future. These podcasts are a guide for how to take care of yourself. If you take care of your car and maintain it, why not do the same for your personal machine, your body, if you know you should, but haven’t yet, the information in these podcasts contains some easy recommendations for where, when, and how to get started. Follow the podcast, as we explore men’s health with renowned experts and embark on a journey towards better health!

Dr Pelman (01:25):

On this episode of  The Original Guide to Men’s Health, we will be interviewing Dr. Gail P Jarvik MD PhD. Dr. Jarvik is the [Endowed Chair in Medicine and Genome Sciences, the Division Head and Professor of Medical Genetics, at the University of Washington, Seattle. Dr. Jarvik completed medical school at the University of Iowa and was in the MD-PhD program, completing her PhD at the University of Michigan. Dr. Jarvik undertook her residency training in internal medicine at the University of Pennsylvania and came to the University of Washington in Seattle for her fellowship in Medical Genetics. Dr. Jarvik is the President Elect of the American Society of Human Genetics. And we’ll soon ascend to the presidency of that society. Welcome Dr. Jarvik.

(02:18):

Thank you for taking the time. Medical Genetics is awesome and such a rapidly expanding field. So for listeners who are going, what is Medical Genetics? Why don’t we just give a little overview of what that is?

Dr Jarvik

 Medical genetics, I think is a little known field of medicine, where we focus on disorders that run in families and these cut across any specialty that you can imagine from heart disease to childhood disorders, even though there’s one training in medical genetics, we tend to do our practice as pediatric genetics versus adult genetics. I’m an adult genetics provider. So I see patients often, I would say about half our business is people with cancer risk in their family, but many other disorders, on the pediatric side, of course they’re seeing children with congenital anomalies, children with intellectual disabilities and other syndromes to try and make those diagnoses and provide care plans.

Dr. Jarvik (03:22):

So there are obviously multiple aspects to medical genetics. One is who should be tested? Why should I be tested? And then the testing isn’t just enough to send off blood or a swab, but you need counseling. There should be somebody who’s advising you as to what can be done or what can’t be done. So how it an adult, let’s say, we’ll start there, look towards medical genetic testing.

 So yeah, my first question is, which adult probably wants to have medical genetic testing? And those are people with disorders that run in their family. As I mentioned, cancer, breast cancer, ovarian cancer, colon cancer, but cancer at early ages, multiple people with cancer, multiple generations with cancer might all require a referral to medical genetics, many other disorders, hemochromatosis,* you know, Marfan syndrome.* Our disorders get rarer after that. And we are sort of experts in very rare disease.

*Hemochromatosis.org – An Education Website for Hemochromatosis and Too Much Iron-”Hemochromatosis is an iron disorder in which the body simply loads too much iron. This action is genetic and the excess iron, if left untreated, can damage joints, organs, and eventually be fatal.”

*”Marfan syndrome is a genetic condition that affects connective tissue, which provides support for the body and organs. Marfan syndrome can damage the blood vessels, heart, eyes, skin, lungs, and the bones of the hips, spine, feet, and rib cage. Some complications of Marfan syndrome can be treated or prevented, including heart disease, bone deformities such as a curved spine, eye conditions, crooked teeth, and collapsed lungs.”

Marfan Syndrome | cdc.gov

Dr Jarvik (04:29):

And sometimes we’ll see those patients and sometimes we’ll see patients with undiagnosed disease as well, to see if it’s genetic. Then the next step is to ask for referral to medical genetics, you would often be seen by a genetic counselor out in the community, in an academic center, there would be an MD Medical Geneticist. There are only about 5,000 trained genetic counselors in this country and half that many trained MD geneticists, and many of the genetic counselors are actually accompanying. So it can be hard to access genetic services in some regions of the country. 

Dr Pelman

Okay. Would most people come to a medical geneticists as referral from their provider? 

Dr Jarvik

Right. Most people do come as a referral from their provider, but you know, many people will find that their providers actually know little about medical genetics as well. And so it is a good idea. If you have a history of disorders in your family, that seemed more than coincidence, or disorders that are happening at early ages, ask your physician whether they’ve considered sending you to genetics, whether that’s a useful thing for you.

Dr Jarvik (05:37):

And the scope of looking into sort of a familial link is okay, we look at blood work and history. The first step is really a very careful family history. And that tells us a lot in medical genetics that tells us whether we’re seeing a clustering of disorders that look it’s more than chance. And it tells us what kind of genetic tests we should be thinking about for that patient, or even is there a genetic test that’s appropriate for this patient? So coming back to cancers, if patients have family histories of early onset cancers, any ovarian cancer, bilateral breast cancer, those are signals that this is not the usual type of cancer and you should consult a medical geneticist and the sort of syndromes that run together of which people are advised. 

Dr Pelman

If they end up with a colon cancer of a certain type, it’s usually coming from a medical provider.

Speaker 3 (06:39):

Yes often, but we absolutely have self-referred patients whose providers never really looked carefully at their family history. Honestly. So the family member says, “gee, this is happening to my aunt uncle, my brother. Yeah. Right.” And ideally we would see the effected family members. So if you have a sister who has breast cancer at 39, that would be alarming. Ideally the sister with cancer would see the medical geneticist because her test result is necessary to do a really good job with the unaffected family members. We need to know what is the change in the person who has the cancer. There are some things we can do if we can’t get that person. And unfortunately with cancer, sometimes the people that you want are deceased. So there is still testing, but the most informative thing is to be testing the person with the disease. And we’re becoming more enlightened about family history, but you know, we’re probably going back two generations, you go back three and people don’t really know what somebody had most of the time.

Dr Jarvik (07:43):

It is very common that people don’t have a good idea of their family history, not just in adoption situations, but depending on how much older your parents were, if you moved to a different area of the country, family history can be quite limited. And in fact, in some of these population-based studies where they do genetic testing in several of these studies, about half the people who they found with a genetic change, that is what we call actionable, which means something that we can actually do to prevent disease or prevent death. About half of those people did have a family history that someone didn’t notice, but about half of them did not have the family history that would have gotten them a referral to genetics. So we’re leaving a lot of people on the table when we just start with family history. 

Dr Pelman

So if we identify a potential genetic issue, I know that in some instances we would advise more rigorous screening or the particular disease in that individual. So if it was breast cancer, you might say, you need to be really careful and we need to have you screened more than the average population. 

Dr Jarvik (08:41):

Yes. So screening depends on the family anyway, but if we find one of these genetic changes that puts you at high risk of cancer, we would start screening at an earlier age 25. In fact, for some of these disorders, we would alternate mammograms with breast MRI, which is not typical for other women. And we also would be concerned about the risk of ovarian cancer and a much smaller risk of pancreatic cancer in people with those changes. So it’s common for us to have someone come in and say, I have a family history of colon cancer. We find a genetic change for colon cancer, and that changes their colon cancer screening, but we’re also screening them for endometrial cancer because the same genetic changes can cause both of those risks.

Dr Pelman

Would somebody listening say, gee, I, I just want to go and get screened, not knowing if there’s anything genetically screened. 

Dr Jarvik (09:40):

There certainly are people who are interested in having the screening and there are actually large self-employed insurers. So not your standard insurance company, but a company that’s large enough that they are the insurance for their employees that will pay for the service for their employees/insurees to get a screening test that looks at the most commonly actionable things, which are these colon cancer, breast cancer, ovarian cancer, but also hyperlipidemia as a product. And that’s something that also boutique medical practices will sometimes offer. But, your average doctor probably doesn’t offer.

Dr Pelman

 So besides identifying who’s at risk and increasing screening and, or in hyperlipidemia, you know, you need to run your lipids and we need to treat the lipid condition. Are there other remedies that are being looked at with genetic splicing and things that people hear about?

Dr Jarvik (10:47):

Right. So most of the genetic conditions that we screen for in adults, we have preventative measures. (Against) We’re increasing the screening where and making some lifestyle changes, we’re not really fixing the underlying disorder now. So I’m sure that a lot of people have heard of these gene editing, CRISPR-CAS9*. You know, there’s a very tiny number of diseases which have gene therapy treatments. They’re often pediatric, but not all. Some eye diseases for adults, for example, but for the average person, we’re not going to be fixing that underlying change. We’d have to get it fixed. And you know, every cell in their colon, right? It’s not a tractable problem at this time. So we really are trying to prevent the disease. The nice thing about colon cancer, genetic changes is that most colon cancers start with polyps.

CRISPR Explained

CRISPR: Gene editing and beyond

Dr Jarvik (11:46):

So if people really do get their colonoscopies on schedule, get those polyps removed, we can prevent the cancer from happening. In the case of breast cancer. We are generally screening to make an early diagnosis, which leads to a much, much better outcome. Although many women do have mastectomies too, which reduces your risk of breast cancer by about 99%. Similarly, those women at risk for ovarian cancer will often have their ovaries and fallopian tubes removed, which also dramatically reduces the risk of that cancer. So again, preventative strategies, not really “turn this into a different gene for you.”

Dr Pelman

 If you listened to the episode we did on GI screening, then, you know, individuals at risk could really start screening at 40. But if somebody was found to have a syndrome, they might even start…

Dr Jarvik (12:42):

Yes, they would start significantly earlier depending on what the genetic change was. Absolutely. And you know, one of the goals in genetics is to be able to target some of these preventative strategies to people more precisely. And right now we’re doing single gene changes, but we are moving toward a world where you have many, many genes that actually affect your risk of cancer, but they do it in a teeny little bit, but you can add them all together in something we call a risk or, and so the genome Institute at The National Institute of Health is very interested in moving forward on these risk scores and seeing if they can develop risk scores that are predictive of disease that can benefit people and can help target screening ages. So for some people with high risk scores, they may start beginning their colonoscopies, at less than 50. In a perfect world, we’d have people who have low risk scores who don’t have to get it until 60.

Dr Jarvik (13:36):

I mean, that would be ideal, but that’s the direction that research is moving in. Those are not ready for prime time now, although I suspect they’re being sold in a few cases now, but we will see genetics as more of a tool for the general population, and not just a tool for rare people, in the next 10 years. 

Dr Pelman

So if I’m listening to this and I go, well, so-and-so in my family had colon cancer. They would be a potential candidate for genetic screening.. 

Dr Jarvik

Yes. Especially depending on the age, you know, these cancers become very common in older people. If your relative had breast cancer or colon cancer in their seventies or eighties, that’s much less likely to be genetic than if they had it in their, you know, 50 or below. So that’s probably a bit bigger signal that you want to talk to a medical geneticist.

Dr Pelman (14:26):

No, it was particularly somebody, very young who got something like that. People were wondering, should I be sending my DNA off to one of these labs that advertise I can send them a swab?

Dr Jarvik

 Yeah. That’s a very good question. And if they did that, they’d be joining literally tens of millions of people who have sent those off. I think for medical purposes, no, I’ve never done it. My colleagues, as far as know, have mostly never done it. Some of us have done it just to see what you get. The medical information from those tests is generally not very useful. It is a little like two times risk, you know, that’s not very actionable. My bigger concern is that we have patients who would have a single genetic change, that gives them a high risk that is not on the test. So for example, the biggest company that offers this test, the only high penetrance IE genetic changes that are very likely to cause cancer, they have for breast cancer, are three that are common in Ashkenazi to Jewish people.

Dr Jarvik (15:29):

If you are not asking as you Jewish, you’re going to get a negative result. That’s going to come back. “You don’t have a high risk breast cancer change,” but there are literally thousands of other high-risk changes in those genes that are not on the test. We would not want people to be misled and think, oh, “I don’t have to worry about breast cancer.” And my sister, at age 40, because I had this screening test that says, “I don’t have those genetic changes” because you’re not probably being tested for what your sister has, unless you’re Ashkenazi Jewish. 

Dr Pelman

So we’re doing the Original Guide to Men’s Health, but we certainly have female listeners. And so the BRCA* gene, I know for men, carries some penetration for the prostate. 

*(1) BRCA Genes and Breast Cancer – YouTube

Dr Jarvik

It does particularly for men with aggressive prostate that becomes metastatic. Those are men that should be evaluated to see if they have these BRCA1 or BRCA2 genetic changes.

*(1) Dispelling myths of BRCA gene mutations – YouTube

Dr Jarvik (16:22):

And then that puts their family members at risk. Right. 

Dr Pelman

Right, and so then there are some companies that you can order that particular test from? 

Dr Jarvik

There are not companies that you can direct-to-consumer order that test. That tests actual sequences. Those genetic tests are not available direct-to-consumer in an FDA approved way, that I’m aware of. There are companies that you can work with that will actually have a doctor who works for the company who will help you order the test. But the bigger tests that you hear about, the ones that you’re finding in the drug store, or, you know, at Kmart, those are not offering you a comprehensive test. So you really want to go through a healthcare provider and to a medical geneticist. Yeah. And in an ideal world, you would talk to a medical geneticist or genetic counselor to make sure you’re getting the right test because we absolutely have had patients who through a non-expert provider got the wrong test and then thought they were clear of something that turned out to be a fightable genetic problem. When we found the patients ordered a completely different tests that was then abnormal and found that change for them, but they didn’t get the right test because unfortunately most general providers are not expert in genetics at this time that the training really needs to improve as genetics becomes a routine part of medicine, which is happening more and more every day.  The medical education needs to improve for providers.

Dr Pelman

 Can we get an overview of a term. We keep using it. “Gene,” if people are wondering why I kind of get that, it’s there, but what is it?

Dr Jarvik (18:02):

Sure. So, you know, you have DNA, right? You’ll get half your genetic material from your dad and half your genetic material from your mom, approximately. And there are genetic changes in these units called genes. And those genes make proteins. There are actually genetic changes that can cause disease. In other parts of the genome. Most of the genome is not these genes, right? So, you know, we just use, gene’s as a sort of a shorthand for, “there’s a change in this thing in your DNA that puts you at higher risk of disease.” And they’re actually changes that, put people at lower risk of disease, but we don’t talk about those medically very often.

Dr Pelman

 A lot of what we’ve been reviewing are “you’re born with these genes” rather than something happening to your DNA. That changes it.

Dr Jarvik (18:54):

You know, it’s funny, we call things, cancer genes, the breast cancer gene, but those genes are there to protect you actually from getting cancer. And what happens is some people are born with a change in that gene. So it doesn’t work well in protecting them from cancer. And then, you know, obviously if that genetic change caused cancer, you’d have cancer in every cell that was the right tissue, every breast cell or every colon cell, what has to happen is a second change happens in one cell in the organ of interest like the colon and the gene that you inherited. Isn’t good enough to fix that. And often there’s a second change in your other copy of the gene. So if you’ve got a change copy from your mother, that’s not working well. If in one cell that copy from your father gets somehow damaged or lost, that’s when you’ll start having a single cell develop into a cancer.

Dr Pelman (19:48):

And, these are different than mutations that are affected because of say radiation or something else. Effecting your existing DNA. 

Dr Jarvik

So you’ve correctly used the word mutation, which means a new change in the DNA. But a lot of people will say, “I have a mutation in the breast cancer gene,” not technically correct. You have a change. The technical term is a pathogenic variant or a disease causing change, but commonly called mutations. But truly a mutation is a new change and radiation can cause, but your genes actually are copying themselves all the time. Things go wrong. The system’s not perfect. That’s why we have these repair systems that can, that some peoples don’t work as efficiently as others. Yeah. And they, you know, things happen and your body really is amazing and that it can repair these defects. The whole system works is incredible.

Dr Pelman

 I’ve always been under some assumptions that as we age that we may not be as efficient.

Dr Jarvik (20:46):

I dunno if that’s true, whether the aging body is less able to repair than the younger body, or there are certainly changes that accumulate over time. And we see that for risks of like leukemia and lymphoma, that people start getting sort of clones that develop that there is one change that starts to out-compete other parts of the bone marrow, for example, depends on what repair system, whether it is working better or worse with time, but definitely changes accumulate over time. So if we were to then look at, what we would hope happens, as somebody is investigated, they are found to have a gene that links them to a particular disease process. They’re screened more vigorously if there’s intervention, medically it’s undertaken. 

Dr Pelman

When you go to meetings for the future of medical genetics, what would you hope to see?

Dr Jarvik (21:46):

So I would hope to see more people being screened for these things that are high penetrants, about 3% of the population would have what we call actionable. Something that we can do to protect your health, that’s not a big segment, but that’s a lot of people who we could be preventing heart disease or cancer in. There’s a group of disorders in that category. I would like to see genetics rolled out to more people. So I’d like to see these risk scores confirmed. There are some significant issues with them, particularly because the risk score is developed in people of European ancestry. Don’t generalize to people of other ancestries and most research in this country is still done in people of European ancestry. So there’s a lot of work from the National Institute of Health to try and develop these sorts of risk scores in other populations.

Dr Jarvik (22:41):

It’s a very different thing for those risk scores. If a single genetic change causes disease in one person of one ancestry at virtually always will affect every ancestry, the risk scores are completely different. So let’s look at the fact that we have a population that certainly is coming from all parts of the globe to the United States, not just Europe. And, as you said earlier, medical genetics is becoming more progressive and we’re understanding much more about it. So what else is exciting that you’d like to let everybody know about? Well, I think a really important issue right now is training the workforce in medicine to take care of people with genetic issues. That means that every doctor needs to understand genetics better, but it’s still remains a specialty where there are a limited number of providers. 

Dr Pelman

So here in the Pacific Northwest, there are not training programs for genetic counselors.

Speaker 3 (23:41):

Genetic counseling is the terminal degree. They’re board certified, most states licensed under their professional agency. And we need more people who are genetic counselors. We are starting such a program at the University of Washington. We hope to be enrolling in 2021 for an 18 month program for a master’s degree, starting with a little over a dozen people, and that will serve our region. It’s very difficult to recruit genetic counselors to rural areas. We have what we call the WWAMI region here, which is Washington, Wyoming, Alaska, Montana, and Idaho. There is one other program in our whole region, which is quite small and it’s distance learning for much of it. So we would be the only cited program in that region. And, I can brag and say that the University of Washington is a genomics powerhouse and we’re overdue to be contributing to the training of these professionals.

Dr Pelman (24:39):

And without us going through all the various diseases that might be recommended for somebody to be screened or looked into, is there a site that somebody, when they finish hearing this broadcast could go to and say, “oh, here’s a list of diseases that may be, I need to pay attention to, or with it to get further information. 

Dr Jarvik

No, there is the National Association for Genetic Counseling* has a website that can help you find a genetic counselor in your area. Not so sure about a site. I think it really is talking to your physician, or you might want to think about what is common in my family that I’m worried about and look up those disorders. The NIH has some resources. So you have to be careful that you’re looking at some medical resource rather than an ad ad, right? Exactly. I’m very leery of direct to consumer genetic testing.

NSGC

Dr Jarvik (25:32):

I think people often don’t understand what they’re buying and it can be a danger to people because we’ve had patients who thought they were tested for something that ran in their family that were not because what the change that is in their family, wasn’t on the test. So if you really think you have a genetic issue, you should not be thinking about these direct to consumer options, but you should be looking for medical care. And these are distinct from people who just want to do the ancestry issue and absolutely go wild with the ancestry. A lot of people like the ancestry, another thing people can think about is the national precision medicine program called All Of Us. So All Of Us is enrolling nationally. You can go on their web portal and they are, getting medical information from participants, but also we’ll be generating genomes for those participants.

National Institutes of Health (NIH) | National Institutes of Health (NIH) — All of Us

Speaker 3 (26:23):

So if you enroll and you’re one of the people selected to get your genome sequence, they’ll be sharing the information that they find that’s clinically actionable with you for free. At a medical grade, those tests would have to be repeated if they’re positive in a clinical setting because they’re research-based tests, but we are actually one of the sequencing centers for the all us program. So I have high confidence in our abilities. And if people are interested in getting their genomic information, that is high quality without making an investment, that is an option that would also help medical research. It’s a really exciting program, collecting people from every ancestry, rural, all sorts of diversity in that program and going to help us understand how to use genetic information in health. 

Dr Pelmam(27:14):

And that is again, is called the All Of Us program. So they can just go to their computer, look it up there.

Dr Jarvik

 Yeah, don’t go to their program, find the homepage. There’s an enrollment thing. And the enrollment page actually has a lot of educational videos. So you understand what you’re signing up for. And again, they’re investigating your DNA particularly, and everybody’s DNA is unique to them, which brings up, of course, some people’s concern that I don’t want my DNA out in a database. So these things that we’re discussing are secure. Yeah. So, I mean, it’s still a good question. So the All Of Us program is generating data for research use that genome sequence is available. It is going to be de-identified in a way that doesn’t directly connect, you know, identify easily identifiable information, but the database will have health history information. It’s not impossible that those could be reconnected. So if people are very concerned about that, that may not be something they want to do.

Dr Jarvik (28:11):

From my standpoint, you know, once you know that you’re at risk of a disease, which the program would return to you, if it’s a high risk disease, you want that information and you have to tell your doctor about it. So it’s in your medical record, your insurance is going to find out about it. Genetic changes cannot be used to keep people from getting health insurance. They can be used to keep you to change or change the costs more likely for long term care, disability, insurance, life insurance. We don’t know of companies that do that, but it’s legal. Whereas using that information for health insurance or employment is not legal under current law. But you do need, there’s something we can do with that information. So that’s a choice. People can make many people make the choice to say, well, I want that information.

Dr Jarvik (28:59):

Even if there’s some risk of an insurance company finding out.

Dr Pelman

 And that’s really an important point you made, they cannot deny you insurance. 

Dr Jarvik

That’s actually against the law to deny you health insurance, and it can not be used for employment. And then it can’t deny you a Medicare ether, RMS, or Medicaid.

Dr Pelman

 If somebody had no insurance, are there ways for them to get checked?

Dr Jarvik

 Yeah, I’m not an expert on that. I mean, we live in an unfortunate health insurance environment where we have a lot of people without insurance. I don’t know what the public health programs are. And I know even Medicare does not do preventative testing so that if your sister has a colon cancer, genetic change, and you’re covered by Medicare, and you want to be tested for that, the program will not pay for that test. If you get cancer, then they’ll pay for that test.

Dr Jarvik (29:47):

Medicare has a very limited suite of preventative healthcare things that it does under law. And this is not one of them. So these tests are not easily accessible to everyone. We are very appreciative that these new sequencing technologies have dropped the cost of these tests. Significantly. You used to routinely pay three to $5,000 for some of these tests. There are options that are self pay that are in the hundreds of dollars. Now for some of these tests. And that’s made a huge change to the accessibility of these tests for people who were insurance denied or not insured. However, there are still families for which that’s a significant burden. And we’ve seen families where people literally pitched in to cover the one test. 

Dr Pelman

Yeah. I think you have a suspicion that it’s worth spending the money or finding the money for that, or seeing what’s available at least.

Dr Jarvik (30:43):

That’s something we talk to our patients about the cost benefit of the test. If they are going to self pay for that test, then we will talk to them about what’s the possibility it will be a positive test. What’s the possibility that that will change their healthcare. That’s part of the counseling that we do when people would need to pay it out of pocket.

Dr Pelman

 And I can imagine the people are listening, going well. I wish they’d be more specific about disease, but there’s just too many to mention. I guess you could go to the computer and look up inheritable diseases. And if you’re concerned that would lead you into a world…

Dr Jarvik

 That would be a huge thing. Yeah, I think it really, I would focus on what the diseases are in my family. And am I worried that we have more than the average person?

Dr Jarvik (31:28):

But you know, it’s certainly true that some of us carry genetic changes that put us at risk of disease without really a family history that would alert us. 

Dr Pelman

Excellent. It’s been highly informative. Anything that you want to contribute before we close up?

Dr Jarvik

I do feel like we probably haven’t given enough attention to pediatric diseases since I’m an adult doctor. And I think pediatricians probably are a little more attuned to when to bring genetics into a case. But as an adult doctor, we see people who have had a syndrome their entire life, they were born with it. We didn’t have the tools in the past to make a diagnosis, and we often have those tools now. So I would suggest to people who have a family member, who’s always been affected with a disorder that has no specific diagnosis to consider whether they need a geneticist involved to make that diagnosis because it can impact other family members.

Dr Jarvik (32:28):

And then the other really interesting national program that I should mention is the Undiagnosed Disease Program that the National Institute of Health funds and it’s often centered in genetics, but these are programs around the country for people who have had a long medical odyssey and still don’t know why, what is wrong with them in order to be qualified for the program you need objective findings. So unfortunately that doesn’t help people with like pain and fatigue, but if you have structural kidney anomaly, if you have muscle wasting, if you have some clearly objective measurable finding, intellectual disability among them, that program is open to people who have had long medical odysseys. It’s completely free to them. They can apply through a national portal, the Undiagnosed Disease Network portal, and be seen for free at a regional expert center. So that’s another program that’s out there.

The Undiagnosed Diseases Program (genome.gov)

Undiagnosed Diseases Network (nih.gov)

Dr Pelman (33:25):

Yeah. There’s some neurologic issues that are very tough to nail down. To be specific about.

Dr Jarvik

 In adults rheumatologic, neurologic are common issues, but we’ve seen all sorts of things. We have a Undiagnosed Disease Site here at the University of Washington in Seattle and on the pediatric side these are often children with congenital anomalies, but also children who develop disease at 2, 3, 4 years of age. That’s had an unusual course and not, it does not run in the family. And sometimes we are just making a diagnosis in these individuals. Of course we don’t figure them all out. But sometimes we can actually recommend specific treatments based on what we find. 

Dr Pelman

Well, thank you. 

Dr Jarvik

It’s my pleasure. 

Dr Pelman

Yes. Thank you very much.

Dr Pelman :

This completes another podcast chapter of the Washington State Urology Societies: “The Original Guide to Men’s Health.” This is Dr. Richard Pelman reminding you to take care of yourself. The Washington State Urology Society wishes to thank all contributors, who volunteered their time and knowledge. The information presented is the opinion of the speakers. The Society also wishes to thank Sean Fox for his invaluable technical assistance, music theme “San Juan Bells” written and performed by Dr. Dave Whiting, the podcast is the property of the Washington State Urology Society.  Reproduction and use without the express consent of the Society is strictly prohibited. For more information about men’s health visit wsus.org or visit your physician or care provider.

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