Up next on "Cycle of Health."

>> Tonight's topic, genetics from the double helix to the whole design of our inheritance to the cutting edge discoveries reshaping medicine.

Tonight we are joined by three experts providing insight into genetic diseases and counseling.

Gene editing and recent scientific discoveries shaping modern medicine.

modern medicine.

>> Hello and welcome to Cycle of Health, I'm Dr. Rich O'Neill.

Tonight's topic: Genetics.

From Watson and crick's double Helix of DNA that hold design of our inheritance to the cutting edge discoveries reshaping medicine.

Tonight we're joined by three experts who will help us explore the fascinating world of DNA, gene editing, and the latest scientific discoveries that are changing the field of medicine.

Let's meet our guests: Dr. Robert Roger Lebel, Medical Geneticist at Upstate Medical University Dr. Gloria J. Morris, Assistant Professor of Medicine at SUNY Upstate Medical University and Supervising Attending Physician for the Genetics Program at Upstate Cancer Center Ms. Bonnie Braddock, Senior Board Certified Genetic Counselor and Lead for the Genetics Program at Upstate Cancer Center Tonight I want to start off by saying hello to my brother whose name is, you guess guessed it, Gene.

My parents named him after the playwright Eugene O'Neill.

I don't know what they were thinking.

In any event, Gene, there is going to be a quiz so you better pay attention.

Now, bob, you have been an Upstate faculty member for 15 years, practicing, teaching, doing research.

Unness you are still hanging around because you finally got a good parking place and you want to mill can it, you must feel have you some knowledge to pass along to your patients and students.

>> I do.

I'm excited about the opportunities do that.

The teaching is wonderful, the students full of energy and excitement and the patients are forever challenging.

One of the ways in which I like to think about what we do, and in fact what geneticists in general do, is that we meet people who have questions and puzzlements about genetics and her read heredity and wondering where things stand, what say the diagnose is of a child with a complicated picture of abnormalities or what the risks are for certain health problems and their family and they go from year to year, talking to this doctor and that doctor and never quite getting an answer.

They're like Ulysses Is trying to get home after the Battle of Troy and he keeps getting way laid and it's a long time to get home.

>> A long Odyssey and it's a book called the Odyssey.

We get encountered by people on a diagnostic Odyssey trying to get to the home which is the final clear diagnosis and explanation of their problem, and we get them there.

We bring them there.

We conclude diagnostic Odysseys.

That's how I like to think about what I do as a geneticist.

>> Somebody might come to you after seeing a whole string of other Docs and then come to you and they say we still have this big puzzle.

We don't know how to solve it and you take a different look at things.

>> We are able to do certain types of genetic tests that are not readily available in the community to most physicians and allow us to dig deeper into the genetic material.

For example, I saw a child with an intellectual disability and seizure problem and doctors were giving seizure medications, but they didn't seem to be working.

And we were able to finally identify that a recently discovered Gene was causing the seizures and that particular Gene was going to respond the only to one particular seizure medication, not one of the first few that people think about using, but something farther down the list.

When the neurologist began giving that medication to the child, the seizures stopped.

And so we got the diagnostic Odyssey concluded by naming exactly what Gene was in trouble in that child causing the seizures.

>> So this is what we have heard about for quited sometime, personalized medicine.

And it's personalized down to the level of genes that are... >> Yep.

>> And you-- how do you work with Dr. Morris and miss Braddock.

How does it get to you.

>> My training as medical oncologist has evolved such that I have found that the ready testing for heredity dispositions for cancer as well as trying to identify specific DNA repair mechanism mutations may not only been utilized for immediate treatment purposes for patients who have recently been diagnosed with a cancer.

But if they have had cancer or certain patterns of cancers in the family, how can they and their family members then undergo early surveillance in order to stay ahead of any diagnosis of cancers in the future.

>> So you are looking at the whole family history.

And I'm imagining this is where you come in, too, Ms. Braddock.

>> Absolutely.

>> Tell us about... >> Well, you know, we'll meet with individuals or families where the question comes up: Could cancer in a family be due to a hereditary factor.

We are going on to look at your health history, look at your family history, and this might be a good point to emphasize how important family history is, even if we don't go any further, know your family history, ask family members about your family history.

Multiple relatives across various multiple generations.

Try to ask more than one person about an individual with a certain condition to be as sure as possible, and then share that information with your healthcare provider and with other family members because they may direct you in a certain way to get you on the road of trying to get answers.

>> So pass the turkey and tell me, have you ever had-- >> Absolutely.

>> That might be a great place, at Thanksgiving or some big family gathering.

You might spend some time talking about the family history.

>> That's right.

So when we are talking about puzzles, that's a big part of the puzzle.

Somebody's health history.

Family history and we look at that.

>> You look at the big picture.

>> We look at the big picture and get a accepts, well, yeah, this may be-- there doesn't seem to be a lot going on here.

Maybe you are not as high a risk as you perceived but these are things that you might be able to do to lessen your risk like anybody can for developing certain disease or certain cancers or the family history could be suggestive of the possibility of a hereditary factor.

These are different things that we could be considering on the list of possibilities.

We can test for these genes if that's information you would like and we can talk through that process and help coordinate that for you and then let's let's talk about how you that comes back that might help direct our recommendations for what you can do for yourself, to screen for disease earlier and maybe more frequently than other people might.

>> Or have people younger in your screen.

You might be 55 years old but maybe there is a 20-year-old who should get screened then.

>> It could change what you are doing for yourself.

It could change what are understanding is railroaded railroading risk to your children if you have children or risk to other family members and you become the person who passes on that information to other people so they can also take advantage of that understanding regarding when are their risk might fall so they can make the best decision for themselves.

>> When you look at the family history, if my understanding is even rotely correct, more people means potentially more risk and some and earlier appearance of say breast cancer and multiple women and some men get breast cancer too.

It's rarer.

But those would be two factors that if I'm seen in my family have a multiple kind of cancer and it would raise my suspicion.

>> It could, right.

>> And there could be histories that may not be so evident, but you know, maybe somebody has a very small family, maybe somebody is adopted and we don't have good namly history family history clues to go on so you know, we may still go down the road, if we don't have family history, that's a good tool.

What are some of the other tools we can use and one of those might be genetic testing.

>> That would be where you come in, Dr. Morris.

So Ms. Braddock sends somebody over to you, sees this pattern and she is looking, she is suspecting that there might be a genetic factor involved.

What do you do next?

>> Right.

We all function as the provider to offer genetic testing and make sure that patients understand the process of the testing, are comfortable with giving concept for this testing and as Dr. Lebel mentioned we use very strongly validated laboratories that are internationally known to do the testing.

>> You don't send things out to 23andme.

>> We do not.

And particularly no direct to consumer testing.

We want to be able to interpret the patterns that we all see and very beautiful, four generation pedigree if we are lucky to have that type of information in front of us.

>> So you can go back four generations if people know?

>> Ideally we want to.

>> And then you called it a pedestrian glee.

That's an interesting name, pedigree.

>> It sounds fancy but it's extremely valuable as the information we can help make decisions from and see patterns from.

I often call it a canvas for a full family and their family members.

We are interested in what is going to immediately affect not only them and their surveillance going forward, but also their first degree relatives, children and siblings, their second degree relatives, their grand parents, even third degree relatives.

All of these have been considered in national guidelines in materials of certain patterns that would meet criteria for sending testing for cancer predisposition genes, specifically of what we specialize in our niche, indeed other divisions of medicine follow the same patterns in card ol-- in cardiology and neurology.

But for cancer predisposition, we can immediately know and actually it's been wonderful to see the evolution of the timing of the testing since I've been doing this over the last 15 years, going from a timeframe of several months to get results back to immediately those who are facing immediate treatment decisions we can get some results back within two weeks.

So that I and other providers can work with multidisciplinary oncologists for a very personalized treatment plan for them, including surgical decisions, radiation decisions, systemic treatment for medical oncologists.

So that information that we can get back from these well validated laboratories, then can help all of our multidisciplinary teams and in the patients, it crystallizes and distill the final treatment decisions for those facing an immediate cancer diagnosis.

For those in the then, I have also referred to it as a ripple effect around a patient who has cancer, for example, all of those within their immediate circle, first degree relatives, even parents, because testing in our particular niche, testing our one patient who may have cancer, doesn't really tell us which side of the family that Gene mutation may have come from.

Whereas testing for, you know, larger spans of DNA... >> So you might test both mom and dad.

So the patient comes in and you might test both their mom and dad and their genes to see which family side is it coming from?

>> Yes.

>> And then so who do you have to warn?

>> Yes.

>> and in our particular situation of adult onset cancers, we would either backtrack and offer hereditary testing for parents, if they're available; for children to see if a person who has inherited a mutation might be able to pass on that mutation and thus the next generation might be at a higher risk than average and make sure all their Sib lungs are tested as well.

So it really is so helpful to have the just this evolution of the ability to test for these cancer predispositions genes at our disposal.

Helping whole families and either ruling in a hereditary predisposition or ruling it out.

>> If I may interrupt for a moment, this really became possible because, you know, bob you told me, 23 years ago is when the human genome first was mapped.

And so this kind of process, is that the same kind of process you do for other diseases that come to you?

>> In some ways, yes.

So, for example, family that's had several members with thoracic aortic aneurysms, might come to us and we might go looking for the exact reason for that.

What I tell people when we get started with the process is that the book of genetics has about 5,000 pages in it.

We've got about 5,000 things we know about.

>> You need a big backpack for that book.

>> And if you have a problem and you are trying to identify the problem, it's that you are trying to get to the correct page in that book.

So that when you read it, you'll know whether you are already doing all the right things or whether there are things you should be doing differently.

As I mentioned before about the seizure medication.

I have seen, for example, somebody who had a worsening heart problem and when we finally nailed down exactly why and opened the book to that page, we found that we were using the wrong cardiac medication that was a cardiac med that works specifically well for that genetic disorder.

>> I have to say that I'm amazed by that.

>> Well, so am I.

>> I'm amazed by that.

Because you can now go down to the level of Gene and say, the people who have done research can say this med works better with this Gene than that med.

>> Correct.

>> That's amazing.

>> And like the cancer families, going back to the thoracic an your recidivisms, if-- aneurysms and if we test one of them and find exactly why this family has this, then all of the relatives that are at risk for having inherited it can be tested.

And statistically, about half of them will be shown to have inherited it and about half will not have inherited it.

So it's a big deal.

It's not just curiosity.

It makes a huge difference to planning the treatment of the individual and figuring out who else is at risk.

As is the case with the cancer families.

>> If I knew I had or did not have a potential for a thoracic aneurysm-- what did you call it?

>> Thoracic aneurysm.

That would be a great relief to me or I would really want to take it seriously.

>> Yes.

>> Now we just have a couple of minutes left.

We were talking earlier about the difference between acquired mutations and inherited mutations.

Tell us about that difference.

>> It's a very interesting phenomenon that we try to sort out for patients for their understanding, for our understanding of Gene mutations that can be seen both within tumors themselves because tumors themselves also find ways to escape normal growth controls, escape cell cycle controls to also up regulate other growth signals.

Very rarely can we find a companion Gene mutation that matches tumor Gene mutation that has been inherited.

Often times cancers proceed because of acquired mutations.

>> Now when you say acquired we only have 30 seconds to go, I'm hearing don't smoke.

And what else?

Don't eat nitrates.

>> These are the most important aspects that, behavioral aspects that people can modulate and people can control.

>> Anything else?

>> We are also trying to explain what can be controlled and what can't be controlled.

However, it's still a work in progress.

But it is known, the multiple car sin-- carcinogens in cigarette smoke that do cause multiple Gene mutations in multiple tissues and that is one of the most important and controllable behaviors that we strongly advise that people can stop.

>> So bottom line, folks, if you are still smoking... quit.

Stop that.

And listen, that's almost all the time we have thanks to our guests Dr. Roger Lebel, Medical Geneticist at Upstate Medical University Dr. Gloria J. Morris, Assistant Professor of Medicine at SUNY Upstate Medical University and Supervising Attending Physician for the Genetics Program at Upstate Cancer Center Ms. Bonnie Braddock, Senior Board Certified Genetic Counselor and Lead for the Genetics Program at Upstate Cancer Center Let's take a moment for some laughter.

For those joining us for the first time, we have a new weekly tradition here - it's called 'Laughter is the Best Medicine.'

Science has shown that a good laugh brings a bunch of health benefits, therefore, I'd like to leave our viewers with a smile by sharing some light-hearted jokes as we conclude our time together.

I walked into the biology lab and saw my lab partner dissecting an insect.

>> Don't know.

>> I think your fly is open.

So, what do other plants do when one of their plant friends is sad.

>> I don't have a clue.

>> Photosympathize If you think you have better jokes and want to suggest one for laughter is the best medicine, or to see more of yowr program, visit wcny.org/cycleofhealth.

To hear our new companion Community FM radio show, Check up from the Neck Up, visit wcny.org/communityfm For 'Cycle of Health,' I'm psychologist Dr. Rich O'Neill.

and here is this week's mini check up from the neck up.

Thanks for checking in.

Hi.

I'm psychologist Dr. Rich O'Neill with this week's checkup from the neck up.

Uncle arlie and the Battle of the Bulge, or ending our everyday wars.

Well, folks, my wife and sons and I were retracing the allies advance into Germany in World War II, except in reverse, from Berlin to Belgium to France.

7 a.m. when we crossed into Belgium.

In a bakery, we asked directions in high school French to the cemetery for soldiers who died in the Battle of the Bulge.

With a somber face, a man beckoned for us to follow as he drove through the rain, through rolling land to marble columns with eagles, walking through, we saw a bronze archangel placing a Laurel wreath on the honored dead, 7,992 white grave stones in sweeping arcs behind.

Uncle arlie's was a few rows back, a few in on the left.

I had never met him so was surprised to feel very sad and to start weeping as I met him for the first time.

Then, as we read his name and date of death, my older boy nick, all of 19, said, shocked... he was my age when he died.

And so with all the other graves, 18, 19, 20, arlie and my mom were from South Dakota, originally from Germany.

Later I heard that some German soldiers had been buried briefly in the cemetery before going home.

In death, more alike than different.

I walked alone on the beautifully tended grass, reading names, the cold rain leaching through my poncho.

Imagining what it was like to fight and die here.

Imagining my sons, fighting here, dying here.

We have a natural instinct to defend when our lives or those of loved ones are in danger.

Tragedy is born when, without threat, without judgment, tempering misplaced emotion, we kill.

Honor is given to those who protect.

I feel so lucky to see my sons growing to be honorable men, nurtured in part by the sacrifice of those whose lives ended on that battlefield.

This Memorial Day, I'll remember my profound gratitude and grief at the price of losing reason.

I hope, when I, myself, feel the urge to strike out blindly, they will remind me to search for common ground in strife, to recognize that few things are really life or death, to hold my ground with courage when they are and to make peace with respect and dignity.

I'm Dr. Rich O'Neill.

Thanks for checking in.