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OCTOBER/NOVEMBER 2016

MAGAZINE

The 2016 Health Issue

Uniquely

YOU:

H O W C R A C K IN G

THE CODE

o f our D N A sparked a r e v o l u ti o n i n personalized medicine here

ALSO INSIDE:

$2.95 OCTOBER/NOVEMBER 2016

The Ol’ Ball Coach comes home Steve Spurrier on his new gig at UF TINY HOME NATION How one downsizing couple found happiness and TV fame

Editor’s LEttEr Editor’s Letter

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8 AUGUST – SEPTEMBER 2016 | GAINESVILLE MAGAZINE OCTOBER - NOVEMBER 2016 | GAINESVILLE MAGAZINE

Cover story Claire Juliet Swanson is photographed here by her mother, Jaime Swanson of Sweet Serendity Photography.

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you

U N I Q U E LY

Reading baby’s blueprints Molecular prenatal genetic screenings may provide a literal barcode of future health

By Darlena Cunha

W

hat if you could hand-select a healthy baby from a roster of candidates? Would you do it? We have the capability, according to Jill Hendrickson, a genetic counselor at the University of Florida and Shands.

In fact, 20 years ago, UF Health facilitated their first of this kind of birth, and the twin girls are thriving adults now. Through in vitro fertilization, the parents were able to implant a healthy embryo after screening for abnormalities based on the fact that both parents were carriers.

They knew their daughters would be clear of Down syndrome and other tested trisomy disorders.

Genetics is a powerful health care tool, says Dr. Robert Zori, chief of UF’s Division of Genetics and Metabolism in the Department of Pediatrics. People who know their genetic makeup can now take steps to minimize their risks and the risks to their children. But where is the line between knowing and minimizing, and taking the future into our own hands?

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Cover story U N I Q U E LY yo u

“This is a complicated field that’s going to produce a lot of questions alongside the answers we are looking for,” Zori said.

“We will be able to tell you what your genes are probably able to do, but that might be less, or in some cases more than you want to know. It gives you a crystal ball. Ethically, are you prepared for the crystal ball, especially if it’s not as clear as you might expect?”

We now have molecular genetic screenings that can take our blueprints and map them out on the next level — a literal barcode of information we can read at will.

Non-invasive prenatal screenings, or NIPS for short, can detect chromosomal disorders, such as Down syndrome, Edwards syndrome and Patau with 99 percent accuracy. That’s up from 80 percent accuracy from the older blood tests which are still commonly in use.

Dr. Anthony Gregg, the director of Obstetrics and the Division of Maternal Fetal Medicine at UF Health Shands Hospital, believes we should be offering the newer genetic screens that test for many more mutations to all parents.

“The idea is that screening has evolved.

Now we can use molecular techniques instead of blood tests,” Gregg says. “What we are doing is we are accessing DNA that comes from the placenta and comparing it to the amount of DNA that come from the mother. So if the 21 chromosome is higher than in the mother, we have a good idea that the baby might have Down Syndrome.”

The American College of Medical Genetics and Genomics has recently released a statement calling for NIPS to be offered to all pregnant women, but that move has yet to be adopted on a wide scale.

UF offers the screens, and additionally, it offers carrier screenings, testing both parents for recessive genes they may carry that combined could lead to disorders in a baby.

These screens act as guide to the future. Two parents with a recessive gene abnormality have a 25 percent chance of having a child affected by the disorder attached.

Kristyn Mills originally wanted screening to know for certain whether she was going to have a girl or a boy. Her father was ill and has

Genetic specialists Dr. Roberto Zori, from left, Jill Hendrickson and Dr. Anthony Gregg pose in front of a sculpture depicting the double helix of DNA. Photo by Matt Stamey

since passed.

“I just felt certain it was another little girl, even though the ultrasounds told me boy,” Mills says. “I wanted to be positive of the sex, so I could tell my dad what his next grandchild would be.”

After the original blood test, which came back negative for all three chromosomal disorders, Mills was offered NIPS and a carrier panel. She took it. It came back with rare results.

Both Mills and her husband are carriers of a rare genetic disorder, known as congenital order of glycosylation type 1a. This metabolic disorder causes developmental and physical delays, strokes and can result in infant death. The Mills’ son had a one in four chance of being born with it.

“At first, I thought, ‘Why wouldn’t I want to know what I was a carrier for?’ ” Mills says. “But when the results came back, I had to face something I wasn’t prepared for. I’ve see blueprints, 47

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What to know when getting

genetically tested

By Darlena Cunha

A

s technology moves forward, it’s no longer necessary to get gene panels and screenings through a hospital system or doctor’s office. Independent companies such as 23 and Me offer 35 carrier screenings for disorders such as Sickle-cell anemia and Tay Sachs disease, in addition to hereditary history and even traits like hair curliness and finger-length ratio. All for $200. With the ease of a quick saliva swab and relatively low cost, it’s no wonder they’ve taken off with consumers. While many doctors are happy with the increased knowledge and interest in genetics, there is an important factor missing in these results: the genetic counseling that is at the forefront of any hospital screen.

“Anything that raises awareness of genetic testing is good, but it’s complex and not every disorder is covered,” says Dr. Lucio Gordan, a medical oncologist and hematologist, and the head of quality and clinical informatics at Florida Cancer Specialists. “It’s a double-edged sword. It’s helpful, but we have to be extra trained to help people know what to do with the information.

This testing requires an understanding of hows and whys.”

Those who opt for the take-home tests do have access to information about their results through organizations like The Genetic Support Foundation, but many consumers don’t know these networks exist.

But why is genetic counseling so important? Jill Hendrickson, a genetic counselor at the University of Florida and UF Health for 15 years, spoke to us about the importance of a well-rounded genetic analysis for each individual going through the screens.

Q: Why would people need a genetic counselor once they have the information in hand?

A: You sometimes get back information that’s really difficult to interpret. Sometimes there are things on the panels you won’t have even heard about. You have to research it. Most commercial genetics labs do have genetic counselors available to discuss results and generate a summary to send back to the requesting physician and that is an option, but the ordering physician group is ultimately responsible to make sure the patient understands the results and that the patient is able to make personal decisions based on results. We prefer to handle our patient results since we do have the appropriate expertise and can consider results in light of the complete patient.

“

It’s a double-edged sword.

It’s helpful, but we have to be extra trained to help people know what to do with the information.” ­— Dr. Lucio Gordan

Q: People could look up the information on their own, so what more can a genetics counselor offer them?

A: We present the information. Some people might select one test over another depending on what the patient is looking for or based on family history and ethnic background.

I have the time and I go back through the family history and do a pedigree with the patient. We can draw connections and conclusions from that history and it makes every case very individualized.

I spend on average 40 minutes with the patient. Remember, too, that in some cases there are false positives and negatives. Family history can help put that into context. We also have the ability to test for hundreds of genes.

Q: Genetics is about the past, but also about the future. How do you help patients in that way?

A: I help people think through what is most valuable to them. What information would you want to know or not know and what would you consider doing with that information? Would you want invasive testing for additional information if it is offered?

There are people who don’t want the information because it’s not going to change their decision at all, but a lot of people don’t know what they’d do until they’re there. They might think they know what they want to do, but I’ve seen people change their mind in the situation. It’s information that people can use to make decisions, and in most cases it reassures people. It limits risk. We make a plan together. We go through it together. see checklist, 47

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Cover story U N I Q U E LY yo u

R. David Anderson, M.D., and Julie Johnson, Pharm.D., consult in the cardiac catheterization laboratory at UF Health Shands Hospital, which now uses the power of personalized medicine in choosing a drug treatment plan for its patients.

Photo courtesy of UF Health

The

prescription’s

in your DNA

UF Health’s Personalized Medicine Program harnesses our genetic code to design drug treatments that work best for us

By Jacki Levine and Patricia Klier

W

hen Dr. Julie Johnson was a young pharmacist, she witnessed a frequent, intriguing phenomenon: A medication that would work beautifully for one patient would fall flat for another.

And while some patients would experience no side effects, others could not tolerate that very same drug.

Why? The question fueled Johnson’s imagination ... and her research. Soon, one reason for the variability became clear: It’s in our genes.

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Today, Johnson, distinguished professor and dean of the University of Florida College of Pharmacy, is the founding director of the UF Health Personalized Medicine program, a national leader in “pharmacogenetics,” which harnesses information found in our genetic code to design drug treatments that will work best for us as individuals.

Since the groundbreaking mapping of the human genome was completed more then a decade ago, the field of precision medicine — which considers an individual’s genetic code as well as lifestyle and environment to make informed health care decisions— has become the brave new world of medicine. From battling cancer to unlocking the mysteries of depression, researchers are now equipped with a golden key to unlock the secrets of an individual’s most fundamental structure in designing effective medical treatments.

And UF is in the forefront.

Led by the College of Pharmacy’s faculty under the umbrella of UF’s Clinical and Translational Science Institute, the program brings together a team in clinical, informatics and laboratory medicine for patient care, education and research.

It began in June 2011, with a one-year grant from the National Institutes of Health to create the program at UF and replicate it at Stanford University, and a four-year grant to collaborate with five other institutions to gather data on launching personalized medicine programs.

With the power of genetic testing conducted on-site, health practitioners offer patients customized drug treatments for everything from heart disease, pain management, leukemia and liver disease. Soon, genetic testing will be expanded here in the area of treating child and adult psychiatric issues.

“It’s certainly not commonplace around the country,” says Johnson of the program.

“My research since I’ve been at UF has been focused on trying to discover those genetic variations, mostly with drugs for heart disease,” says Johnson.

“Around 2009, 2010, myself and other people doing similar work began to feel that for many cases, we have very good examples between genetics and response to medicines.

But it wasn’t being used in a clinical setting.

So we really tried to bridge that gap.

“At UF Health we’re in a leadership position. The idea with using precision medicine (another named for personalized medicine) is really using whatever information you can that is individual to that patient to make the

best decision for them.

“For some diseases, there is very much a protocol of medications that would be used; in other diseases, like high blood pressure or depression, for any given patient not all those medications will work. It is trying to figure out how to reduce the trial-and-error approach, how to figure out an approach that uses all the information we have.”

In June 2012, the program launched at UF Health Shands Hospital with a simple genetic blood test for heart patients to measure how they might respond to the anti-clotting drug, clopidogrel, commonly known as Plavix. The medication is often prescribed following catheterization for

blocked heart vessels. For some it is highly effective, but for others, based on one particular genotype, the drug does not provide the needed benefits.

Treating chronic pain has been a particularly stubborn challenge for physicians who must balance the need to relieve patients’ suffering with the risk of opiate addiction or even overdose. Genetic testing is proving a boon in this area.

“We have implemented testing to determine how people might be affected by pain medication because our physicians were asking for it,” says Larisa H. Cavallari, UF associate professor and associate director of the Personalized Medicine program. After a

UF associate professor and associate director of the Personalized Medicine Program Larisa H. Cavallari began working at UF in 2014.

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Cover story U N I Q U E LY yo u

“The cool thing about genetics is that it doesn’t change over your lifetime.”

Dr. Julie Johnson, Pharm.D., is dean of the University of Florida College of Pharmacy. Photo courtesy of UF Health

post-doctoral fellowship with Johnson, she began working at UF in 2014.

“About a year ago, we started working with doctors to identify the best patients for testing; those who weren’t responding well. We started doing it as part of the research study which allows us to pay for the patient’s medication. We want to see whether this will help with patient care; so by knowing the genetic result and changing their therapy, does it change their pain level? It is all clinical right now; it’s about collecting the results.”

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In a nutshell, genetic testing is looking at the patient’s level of CYPZD, a drugmetabolizing enzyme.

“Some people are born without the enzyme, and others are born with too much of it; so what happens is that people who are poor metabolizers won’t activate it (the painkilling medication), so it won’t reduce their pain. If they are super metabolizers, it can have an adverse effect.”

Adds Johnson: “One of the examples there, it’s a difficult situation for

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physicians to tease out when someone comes to them. Is the pain real or is this an abuse thing? For a number of opiates, the way they are broken down as enzymes in the body, for some people they may not be getting a response. Ten percent of the population cannot respond to codeine because of their genetics. So if you have the genetic information, it helps the physician understand if the patient is saying they’re not getting a pain response, maybe another medication needs to be used.”

Genetic testing for potential cancer therapies offers a brave new world of treatment. Currently, the program offers a TPMT protein genetic test to screen patients considered for the thiopurine family of medicines, designed for patients with pediatric acute lymphoblastic leukemia or with certain bowel or joint disorders, such as Crohn’s disease. The drug depends upon the TPMT protein in the body to be processed; if the protein is slow in metabolizing the drug, it will lead to adverse side effects.

“In a lot of ways the cancer field is ahead of the game on this. Here, clinically, they will genotype the tumor tissue to determine the best medicine.

It will be a combination of the genes you’re born with and those that the tumor might possess,” says Cavallari.

Today, much of the genetic testing at the Personalized Medicine program is geared toward the reaction to a particular medicine and treatment. But in the future, the program — which received a four-year $3.7 million grant in June 2013 to grow as part of the Implementing Genomics in Practice (IGNITE) Network — may expand its focus on pre-emptive genotyping.

Johnson envisions a near future when a patient’s entire genetic profile will help guide his or her medical treatment.

“The cool thing about genetics is that it doesn’t change over your lifetime,” Johnson says. “It’s not like glucose that is constantly changing. It’s really a lifetime test. (Now) we do genetic testing as needed. In the next five, to 10 years, it maybe really relatively inexpensive, and it would sit somewhere in the medical record until you needed it, and then you could pull it out.”

Finding new hope,

within Genetic test reveals why medication couldn’t stop this man’s constant pain

By Jacki Levine and Patricia Klier

I

n the last decade, life changed dramatically for Jeff Cruse, a High Springs native. Twice.

The first time was devastating.

In 2009, the father of three daughters was atop a scaffold installing acoustical tile for a local engineering firm when he toppled to the ground, the heavy scaffolding falling on him. A cap had been left off a floor outlet, leaving the floor uneven and the scaffolding unsteady.

His more than two-decade career in construction was over, and he suffered constant back and neck pain.

“I had worked 20 years and never been hurt, and in the blink of an eye it all changed,” Cruse says.

“The friends that I made in the field, all that was taken from me. I would just sit at home and just cry, I was so depressed and had never been that way before.

“I lived in pain every day and every night. I have a lot of nerve pain; it’s like a knife sticking in my back. I wake up with it in the night.

It is unbearable a lot of times,” he says.

While the pain continued unabated, Cruse’s daily life seemed to slip away.

“I was overmedicated,” he remembers. “I couldn’t even function anymore.”

Worse yet, was this: “My daughters wouldn’t let me hold my grandbabies. They were scared for me. I was so out of it, I didn’t even realize it. I couldn’t enjoy life anymore,” Cruse says. “I was

Jeff Cruse and his daughter Alexis Cruse. As a result of being overmedicated for pain, his daughters were concered about how steady Cruse was on his feet. Today, thanks to the appropriate medication, his balance is restored. Photo by Matt Stamey

going to physical therapy three times a week.

I was taking three or four different types of medicines, trying to figure out what was best for my pain.”

Enter the second life change.

Cruse was seeing Dr. Siegfried Schmidt, a University of Florida professor of community health and family medicine, for help with his pain.

“The first time I went in to see him, he looked at me and could tell I was overmedicated. He asked me to stand up and walk heel to toe; I thought that was a crazy question.

And I couldn’t do it. I was just amazed. That is what my daughters could see, too. He started working with me and started getting me off of some of the medications I was on; some of them were meant to do the same thing.”

Schmidt adjusted his medications and got Cruse counseling for pain management, but after several months of a certain level of relief, Cruse complained the pain was worse.

“I was taking hydrocodone; he thought I was trying to get a stronger pain medicine,” says Cruse of his doctor’s initial skepticism.

But Dr. Schmidt had a relatively new weapon in his arsenal: Genetic testing through UF’s new Personalized Medicine

program, part of the College of Pharmacy. (see related story).

Cruse agreed to take part in a pharmocogenetics study to look at how genetics impacted drug therapy. In his case, it would measure if his genetic profile was affecting how well his drug therapy was working.

Specifically, researchers were looking at the way the enzyme CYP2D6, which is a protein that metabolizes certain medications, was converting pain-killing drugs into a form that was effective. In patients in which the CYP2D6 was under active, particular kinds of opioids would not work against pain.

“After I got the results back, Dr. Schmidt came back in and said, ‘I see you were being honest with me about the pain medicines not working.’”

What the tests revealed was the need for a different medication.

“As soon as he changed me over from hydrocodone to oxycodone, I got immediate relief,” says Cruse.

“Nothing can take the pain away (completely) but it does ease the pain. He was a godsend. Words can’t say how much this doctor has done for me. He put me on a new path.”

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Cover story U N I Q U E LY yo u

When our genes provide a

warning Genetic testing for cancer is scary — but it can be lifesaving for you and your family

I

By Darlena Cunha

was in the grocery store when I got the call you never want to get. “Hi, Ms. Cunha, we’d like you to come in to discuss the results of your genetic testing.”

I made the appointment and finished shopping, all the while knowing my DNA had somehow betrayed me, knowing my life and entire medical plan was about to change. Two weeks before, I’d gone to see the Florida Cancer Specialists for a genetic test. They took my blood, told me the likelihood of my genetic mutation, and sent me home with paperwork about it.

I’m BRCA 1 positive. I share this predisposition for breast and ovarian cancer with Angelina Jolie and one percent of the overall population. For those unfamiliar, BRCA is responsible for 5 percent of breast cancers and 15 percent of ovarian cancers, according to numbers from the Mayo Clinic. It affects only 1 percent of the population, and those with the mutation have a 65 percent chance of developing breast cancer, as opposed to the 12 percent chance of the general population, according to the newest statistics from the American Congress of Obstetricians and Gynecologists.

The BRCA test, like all genetic screens, does not mean you will get cancer. It simply tells you your likelihood of developing the condition. And knowing your genetic makeup has a plethora of benefits. It allows you to tailor a medical plan for your future self, and to catch any abnormalities early enough to fix them.

“Genetic testing may make people healthier because if you test positive you can be more proactive,” said Dr. Lucio Gordan, a medical oncologist and

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Dr. Lucio Gordan, a cancer specialist at North Florida Regional Medical Center, personalizes his treatments when possible according to his patient’s DNA. Photo by Jacki Levine

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Cover story U N I Q U E LY yo u hematologist, and the head of quality and clinical informatics at Florida Cancer Specialists. “You could then choose to diminish your risk of cancer by taking preventive measures, such as bilateral mastectomies or more frequent mammograms (for breast cancer). You’ll be watching for the condition, which can lead to early diagnosis. That makes the treatment more effective and improves outcomes.”

Still, when you’re the patient, sometimes it can be hard to see genetic testing for the gift that it is. At this stage, genetic tests are only approved by insurance companies if a patient has a family history that warrants it — meaning that anyone getting genetically tested is preparing for bad news.

“We start getting concerned with testing depending on family history estimated risk. You’re considered moderate risk, if you have one first-degree relative with onset of the disease, or two affected second-degree family members,” Gordan said. “High risk family history includes unusual presentation or premature disease in first-degree relatives, two or more second-degree relatives with premature onset, or three or more affected family members on one side of the family.”

In my case, the test was easy to come by. My mother is BRCA positive, as are all three of her sisters. One of them is a cancer survivor. My grandmother had breast cancer in her 40s, and my greataunts died of the disease at 36 and 42, respectively. My cousin, who is two years younger than me, is battling Stage Four breast cancer right now.

My history is clearly marked, but many others will be the first generation of genetics testing in their family. And that means they’re saving lives.

Leigh Ann Bennett is a project manager for the Florida Department of Transportation in Lake City. In shape, hardworking, and physically well for nearly all of her life, Bennett had stored up thousands of hours of sick time when her right eye started bothering her in 2012. She decided to check on it before a strenuous training program at work.

“The doctor said I had a tumor behind my eye, and it had to come out right 42

After a bout with cancer, Leigh Ann Bennett tested positive for genetic mutations rendering her more prone to additional cancers. Genetic testing has revealed her mother, sister and daughters have the same mutation. Photo by Rob C. Witzel

“You can imagine how the news hit my husband and I. We just about fell out of our chairs.”

— Leigh Ann Bennett

then,” Bennett says. “You can imagine how the news hit my husband and I. We just about fell out of our chairs.”

It was melanoma. Bennett’s eye was removed and she was fitted for a prosthetic. She started seeing Dr. Gordan for follow-ups. The plan was simple monitoring through PET scans and colonoscopies. She figured her health was clear. Until a scan showed something in her right breast. Cancer.

At the same time, Bennett’s sister in Dallas developed melanoma on her neck.

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With the two diagnoses, Bennett now had family history. Her own.

Armed with the related diagnoses, Gordan was able to get genetic testing for melanoma approved through her insurance. That came back negative, but Gordan persisted. He had Bennett go through UF Shands for more gene panels.

Her tests came back positive for adipocyte-specific apM-1 gene mutation, a very rare mutation connected to increased rates of breast cancer, colon cancer and possibly pancreatic cancer.

Leigh Anne Bennett, right, with her daughter, Rebecca Cassity. Because Rebecca, like her mother, has tested positive for a genetic mutation for cancer, she has become much more vigilant about her health. Photo courtesy of Leigh Anne Bennett

With Bennett’s positive result, both her sister and her daughter got the testing as well. They are both positive. Given that information, her sister got a preventative mastectomy and reconstruction. Her daughter just gave birth, and is being monitored thoroughly for abnormalities.

“There is no simple algorithm as to what to do (with a positive result),” Gordan says.

“It depends on patient age, other medical problems, family history, and how aggressive the person wants to be with the results.

Everyone’s medical plan is different.”

Because of this, Gordan said pretesting genetic counseling is critical.

Bennett says she would have been much more proactive, and had herself checked regularly if she had the information available. She’s happy she knows now.

“If I had known at my daughter’s age, I might not be in the situation I’m in,” she says, “but I may have saved my sister from

this fate and that’s good. I’m truly an advocate for this. people are scared of it, but the more you know, more power you have. You have more control over the situation.”

Today, physicians can do more beyond mapping our genes so we know what might be coming. Our genetic information can now help us fight our own specific illness, through “targeted therapy,” which uses drugs that interfere with a particular person’s molecules to block tumor cell proliferation in a more precise manner, according to the National Institutes of Health.

Each therapy is targeted for a specific person with a specific disease. Dr. Gordan says Florida Cancer Specialists are using some of these techniques. “We are able to select treatments based on some mutations analyzed in the tumor itself,” he says.

To do this, doctors identify cancer cells by looking at the production of protein, which is found in higher levels than in normal cells, according to the NIH. Once these areas are targeted, a small molecule compound or a monoclonal antibody is developed to do any number of things depending on the specific cancer: modify cell protein function, prevent hormone production, block signal transduction, block blood vessel growth, or

kill cancerous cells. These treatments are quickly evolving and are being heralded as the new wave of effective cancer treatments.

Genetic testing was a clear choice for me, and for Bennett after her diagnoses. But — at least for right now —it’s not for everyone.

Gordan says even though we can now map the human genome, genetic testing for everyone would be a waste of resources.

In addition, while we can currently test for gene variants, we don’t yet know what all of them mean.

“We can’t run genetic tests without rules, otherwise these expensive tests would be performed for no good reason, because most would be negative,” he says. “Sometimes we get a variant test, which means there is a mutation, but we don’t know if it’s important yet. The database is being formed as we speak, based on what is clinically relevant.”

Gordan says patients must be properly counseled before the tests are done, so they are prepared for all the outcomes. Each test must be specifically ordered for each individual, and approved by the insurance policy for that individual. Gordan says he must have good reason to recommend genetic testing for a patient before he will order it.

Bennett received hers on the same day it was suggested.

As genetics research moves forward, more tests will be made available to more people, and we will become more refined in seeking out the markers for genetic conditions. Still, knowing the possible future can be scary. I had twin daughters before I knew I had the BRCA mutation. I won’t know if I passed it to my girls until they are 18, and that’s if they choose to have the test.

Genetic testing is truly where science and philosophy meet. We are faced with our own mortality and that of our young. And many don’t want that responsibility. Even with all she’s gone through, Bennett advocates for facing that fear.

“A lot of people say they don’t want to know if they have the mutation, but there are so many advances in this, and if you know, you can do something about it,” she says.

“Yes, it’s scary, but it’s just as scary not to know.”

She thinks of her life as a beacon for others to follow.

“If I can help anyone else, I think that’s why I’ve gone through what I’ve gone through. You need to get tested, you need to always follow up. You need to know.”

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blueprints from page 34

already suffered so much loss, am I ready to have a child that wouldn’t make it? Am I ready to carry a child and grow attached to it and then have to lose it?”

Mills says she decided to think of the numbers as not one-in-four of her baby having the disorder, but instead, as a 75 percent chance of him not having the disorder.

“You get these screenings and you think, ‘They’re not going to find anything.’ I have a healthy baby at home. I come from a strong family with lots of siblings, and we never heard of a stillborn baby or anyone with a major metabolic disorder,” Mills says.

“When you get that phone call, it’s just like, ‘Wow.’ If you are going to do a screen like this, you have to be mentally prepared to have something bad in the results, and you have to already be thinking about what you are going to do.”

The Mills decided to go through amniocentesis to test the fetus for the disorder, as even the newer screens don’t test for such a rare one. She was 22 weeks pregnant, meaning her options for what to do with an affected pregnancy were soon to be severely limited.

Even if she received the information in time to end the pregnancy, those procedures are not covered by insurance, Hendrickson says. Plus, there is severe judgment from people on both sides of the issue.

“People have such strong opinions, but, I can tell you, when they’re faced with it, they don’t always make the decision they think checklist from page 35

Q: How do you talk to someone about their results?

A: Sometimes we have to contact patients with difficult news, be it a complex or abnormal result. Generally, we ask them to come in to discuss the information, but invariably they will ask if there is a problem. Usually I give a short explanation and request that we get together to go over results.

For me, I do my utmost to remain nonjudgmental. I do offer options to patients but don’t make recommendations. I give people information so they can make their own decisions. I make it clear what the tests can do, and what they can’t do. The

they’d make,” Hendrickson says. “It’s a whole different thing to be sitting there.”

Mills’ testing came back negative. Her baby boy carries the gene, but will not be affected. She says she’s done having children after this one.

“We have always said two and we’re done, but this confirms it,” she says. “Every child I have has a one-in-four chance of the disorder. To prevent this from ever happening, I would have to do in vitro fertilization to select (the right genes). How much do you want to roll the dice? Now that I know, do I want to play God and make that decision again? No. We’re done.”

But it would be possible to select a baby not destined for a life of medical intervention. The in vitro selection is called Pre-Implantation Genetic Diagnosis (PGD).

With it, doctors take several eggs from the mother and sperm from the father or sperm donor, and when each of the embryos reaches eight cells, they retrieve a cell and send it to the lab to check its genes. After that, they can transfer an embryo with a healthy genetic code to the mother’s uterus.

Like Mills mentioned, it can be seen as a bit like playing God. The ethical implications of genetics range both wide and deep, and it’s only going to get more complicated from here.

“Someday, we’ll have babies, and we’ll take the cord blood and have a genome on file,” says Hendrickson. “We won’t read it unless something comes up later in life, but we’ll have all the information right at hand, immediately.” positives and the downsides of the situation. Then I support them as they map out their plan.

Of course, the testing that medical institutions offer are far more wide in scope than a home-test, and often much more expensive. The counselors, therefore, also help smooth the way with insurance companies, providing the information they need to cover such screens. They act as a buffer between the patients and the medical industry and a translator between the patients their results. Everyone involved in genetic testing has said that genetic counseling is at the forefront of the technology as its most important piece. If you’re testing at home, research a counselor for yourself.

You might be glad you did.

In the here and now, doctors like Gregg are simply pushing for patient awareness that screenings like NIPS exist. He cited several barriers that he is working to overcome regarding the tests. These are complex tests and so there are issues with medical literacy and how to translate complicated information to providers, laboratories and patients, he says. A lot of these innovations post-date most doctors’ training, so they have to start from scratch to learn a new skill. Then they have to understand how to convey the information to their patients.

“The science is easy. The question is, what does it all mean?” says Zori. “We found the book, but we don’t want to mistranslate those words.” The translation, he says, is always subject to interpretation, which is, itself, evolving alongside the science.

In addition, many providers don’t cover this type of genetic testing in the prenatal stage for pregnancies that are not high risk. The literature and official association recommendations are lagging behind the science, meaning insurance companies don’t have to get on board to provide these expensive tests. But given time and space, Gregg says these screenings will replace the blood test panels currently offered.

“Every physician and patient would say that this is the right thing to do,” Gregg says.

“The problems are that it takes time to do it, and our health system doesn’t reimburse for the time to do it.”

As for Mills, her healthy baby boy is due on Nov. 29. testing from page 39

Cruse describes the genetic testing as “a lifesaver.”

“My life has changed just that quick because Dr. Schmidt knew what to prescribe for me, and the correct dosage. The test gives them a lot of information.”

Cruse is a firm believer in this brave new world of medicine, in which a person’s genetic code can help guide their highly individualized health care.

“There are so many people suffering out there, like I was, and if they could have this genetic testing done, they could be telling their doctors that their medicine is not working for them. It is like a map that shows which way to go and how they need to prescribe medicine.”

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