This is the Health Show, a presentation of national productions.
Advances in medical technology have made it possible to screen children for a huge number of conditions by the time they are two.
That's two days.
As a public health measure, only things like car seats or vaccination are really in its rank.
On today's Health Show, we'll talk to a clinical geneticist about the advances in newborn screening for disease.
We'll also hear from the NIH about screening for cancer in children and adults and how they must balance the pros and cons of these tests.
And we'll hear commentary from a young woman about a brave young member of her family with terminal cancer.
I'm Dr. Nina Sachs.
I'm Bob Barrett and this is the Health Show.
If you're the parent of a newborn, chances are you've had to watch while your baby's heel is pricked and if you drown some blood or squeezed out.
Those dried blood spots can make a huge difference.
Advances in the collection and transport of dried blood spots has facilitated the screening of newborns worldwide.
In a paper published in the July 2013 issue of the journal Clinical Chemistry, researchers at the Wadsworth Center with the New York State Department of Health and Albany
described an easier technique to extract DNA from these dried blood spots to further expand screening to nucleic acid testing.
Along with that paper was an editorial by Dr. Neil Sondheimer, an assistant professor of pediatrics at the University of Pennsylvania, and a clinical geneticist at the Children's Hospital of Philadelphia.
I spoke with Dr. Sondheimer recently about the screening of newborns.
The first of newborns screening is actually identifying patients' newborns with treatable disorders before they ever become sick.
It's a program that's actually at an interesting landmark because 50 years ago this year, the first voluntary screening programs were started.
The program has really been fantastic.
More than a thousand infants every year from the consequences of their inherited diseases.
And as a public health measure, only things like car seats or vaccination are really in its rank.
The program saves lives and has enormous economic benefits for the U.S. and the states by preventing people from becoming disabled and associated costs with disability.
And these programs are still effective 60 years later?
They are. The disorders that they are designed to look for cannot be detected by looking at a baby right after their born.
They are increasingly effective because new measures are introduced as time goes along and new technologies are introduced to improve the ability to discriminate infants who do and don't have disease, and to give us better and better predictive information about who needs to be treated immediately, who can be seen sometime later.
And who is healthy and doesn't need further evaluation?
Well, what about the nuts and bolts of all this? Who runs these programs and how are samples taken from infants? What are the costs that type of thing?
The programs are actually run by the states. So each state has its own set of laws for how the programs will be run.
And all of the samples are taken from infants shortly after birth, usually between one and two days of life.
The details of the program are different, but all of them are based on a heel prick blood sample, which is easier to get from an infant.
And some parents have had the experience of actually seeing this done to their new wards, which isn't terribly pleasant, but doesn't hurt the baby very much.
Only small drops of blood are taken from the infants. And the cost of the program were really quite reasonable, considering the number of disorders screened.
In my state, Pennsylvania, there are typically no costs to families for screening. And the actual cost to perform the screening is about $50 per new ward.
All right, now I'm just raising my hand because I watched them do it to my daughter too, and I was cringing when it happened.
It actually probably bothers the infant more to have their heel squeezed than to have their heel poked.
Now what types of disorders are screened for and what methods are used?
Traditionally, the screen disorders are inherited defects in the processing of nutrients, so protein, carbohydrates, and fats that we get from our diet.
The first screen disorder was something called fetal ketenuria, which interferes with the metabolism of one of the building blocks of protein, the amino acid phenylalanine.
Over time, newborn screening has increased, and it includes problems with red blood cells, problems with the immune system, endocrine defects, and now even hearing in most states is screened for.
The methods have changed, technologies improved. The first test for fetal ketenuria actually used the growth of a specific bacteria in the presence of the infant's blood.
But modern testing now relies mostly on the use of something called tandem mes spectrometry, which is a technique for sensitively weighing and identifying compounds within an infant's blood.
You mentioned that the testing differs from state to state, but does the scope pretty much the same in each state?
The scope has sort of become quite similar in all of the states. There were some consensus studies done at a federal level about 10 years ago, and also through the March of Dimes, and through the genetic society, the professional society for Genesis, which sort of agreed on a consensus list of disorders that should be screened by everyone.
However, as time has moved along in technologies increased, more and more tests are being added on into each individual state, so not every state looks the same.
Let's talk about testing for DNA sequences. The paper from the New York State Health Laboratory that accompanied your editorial describes a technique to do that, but testing from blood spots seems difficult.
Is there really enough there to test and can't really sequence the whole genome from just a drop or two of blood?
Well, DNA is surprisingly robust and quite easy to work with. You have to remember that DNA has been taken from a variety of really unusual sources like skeletal remains and used to perform fairly complete genomic sequencing, so sequencing of all the DNA.
And there's a lot of DNA present, even in tiny drops of blood that are taken from infants. We actually currently routinely use DNA for diagnosis of several disorders.
In Pennsylvania, for example, there's a screen for a disorder called glucose 6-phosphate dehydrogenase deficiency, and that's a primary DNA-based test, so we're already performing that type of testing.
And almost all the states use a variety of what are called secondary genetic tests. In a secondary test, you suspect a disorder because a test shows that there are suspicious chemicals in the blood, and then you look for mutations that may be causing the disorder you suspect.
And it turns out to be true that if you can sequence any particular gene by looking at DNA from a blood spot, you can probably, at least theoretically, sequence all the genes from that blood spot because it means that basically all the DNA that an infant cells is probably there.
What if parents don't want the state to have genetic information about their infants? Are there laws in place to give parents the right to refuse this testing?
The laws are actually very interesting. The rules vary a little bit from state to state, but it's very difficult to refuse this testing.
In Pennsylvania, where I work, parents can decline, but in order to do that, they have to sign a written statement of their objection.
And this is pretty much the most liberal standard available for refusal. In other states, parents have to state a specific religious objection to testing.
In other words, the burden is actually on the parents to show that their particular religion would object to testing, not simply that they personally object.
And this has been tried out in courts. The state of Nebraska was sued over their newborn screening law by parents who wanted to use their religious beliefs for refuse testing, and the courts actually decided in favor of the state to enforce testing.
The issues of genetic privacy have come to the forefront as genetic testing has increased generally in medicine. In several states, the use of DNA on those blood cards has led to some legal struggles.
There was an interesting example actually in Texas, where the state Department of Health cooperated with federal authorities to use DNA from newborn screening cards to create a database of DNA that they actually wanted to use for forensic and legal purposes.
And parents sued in Texas, and the state was forced to destroy all of their leftover newborn screening cards. As a result of these cases, several states have actually passed new legislation to prevent the sequencing of DNA from blood cards for research purposes.
Why would you want to sequence an infant's entire genome?
The reason we would want to do that is that not every disorder that we might want to treat or might be worth dying, no single infant can be detected on our current screen, which is mostly based on certain chemicals that are present, or enzyme defects that we can detect within blood.
So a great example of this might be a defect in the protein that allows sugar to enter into the brain. We have a pretty good treatment for this defect. We know how to prevent kids from having seizures and having a bad neurologic outcome, but we'd have to know that patients were going to be affected by this disease in order to treat it.
It would be much better to start treatment for this disorder before children ever got sick. So if we identified a patient with this disorder or disorders like it, we could reduce or prevent the symptoms of disease or help families prevent the disease from happening again in other pregnancies.
But this disorder is not detectable on the current newborn screen. However, if we did genetic testing, it would be.
Well, you could see some objections to this coming about a being dangerous or stigmatizing people could be concerned about the government or insurance companies having this information.
And this is an important, extremely valid concern. People have a good reason not to like the idea of the government knowing their entire genetic makeup or insurance companies.
It has real implications for privacy and for genetic determinism, which is the idea that people's genes control their future, that there are things they can and cannot do because of their genotype.
It's easy to sort of make fun of popular culture movies like Gatica, but genetic dystopias have been imagined before and there's a good reason we don't want to volunteer and infants genetic information for no purpose.
We don't want anybody making decisions about our health, our finance, insurance, employment or schooling using information that you can't change.
At a federal level, the Genetic Information and Non-Discrimination Act was passed for almost exactly this reason and it protects the privacy of genetic information for being used inappropriately.
It seems almost certain that newborn screening agencies are going to want to do genome level sequencing in the future.
The cost of doing the testing and analyzing the data are going to continue to go down and the value of the information as we do more and more testing on the relationship between DNA and its disease is going to rise.
The National Institutes of Health is actually looking at this question and is funding several centers to look at how and when genetic data from newborns should be used to prevent disease and improve health.
But we're going to have to have safeguards put in place for the use and disposal of this information and they're going to have to be very convincing to the public.
What can be done with information that suggests that an infant might become sick with something but that something won't affect them until much later in life?
Well, that's a classic and very important question that we have to consider all the time even in our normal care patients for whom we do a lot of DNA testing.
What we do with the information is important especially for things that we don't really want to know.
Typically, we think of this from a disease perspective and the classic parlor game we sort of play is with Huntington disease.
And this is an autosomal dominant disorder, it's neurodegenerative, usually starts in adulthood and it's currently incurable.
Our default position could be that if someone is being screened for a specific set of problems and we find out genetic information for another problem entirely that we'd want to censor that data, we wouldn't want to give people answers to questions that they didn't ask.
However, we wouldn't do that if it was the disorder we could treat.
For example, if we were testing a child for a movement disorder and we found out that the child had a genetic predisposition to having high cholesterol or heart disease, we'd want to communicate that information.
The problem is that censoring information is a tricky position. It's actually something called a paternalistic position. We should be very careful anytime we say that we can look at information as physicians but that families shouldn't get to know the results of a test.
The other problem is that we're making a prediction that a disorder we have detected which may be untreatable today will always be untreatable.
This isn't a safe assumption with an infant who's going to live for many, many decades. We all hope and believe that scientific progress will expand the number of treatable diseases over the life of this newborn who are testing.
And we don't really have a sense of what medicine is going to look like in 60 years. This makes it possible that full disclosure may be best but it's a complex issue and will require more thought before genome level testing is used routinely in healthy infants.
Dr. Neal Sontamer is an assistant professor of pediatrics at the University of Pennsylvania and a clinical geneticist at CHOP, the Children's Hospital of Philadelphia.
You can read more about newborn screening in the July 2013 issue of the journal Clinical Chemistry.
Still to come, the science behind screening for cancer can be a bit of a balancing act. That's next on the health show.
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This is the health show. I'm Bob Barrett.
And I'm Dr. Nina Sacks. New tests that can screen for different types of cancer can be lifesavers that help doctors find disease at its earliest stage.
But the advantages must be balanced with some risks. Jovalin Fee of the National Institutes of Health explains.
Some types of cancer can be found before they cause symptoms, checking for cancer or for conditions that may lead to cancer and people with no symptoms is called screening.
The goal of screening is to detect cancers that would be easier to treat and particularly to change the outcome.
Dr. Barry Kramer at the NIH says it's not enough to just detect cancer early.
You're looking for the cancers that would have cause problems and are lethal in potential, hoping to pick them up at an earlier point in their development at a time when they can be treated and the death from the cancer averted.
Screening is a tool that's used across many illnesses, but Dr. Kramer adds that there are some particular challenges or differences when it comes to cancer screening.
In part because not all the cancers that we detect are lethal and yet under the microscope they look similar enough to the lethal cancers that they have to be treated.
Therefore in cancer screening says Dr. Kramer, there is an element of overdiagnosis. There's also the concern of false positives.
There can be false positives that happens quite commonly with a variety of screening tests.
So the person without cancer actually has a positive test and therefore they have to go through the fear, the false alarm and the anxiety of going through workups in the fear that they may actually have cancer when they don't.
He also points out that screening tests can have some risks just from the test themselves.
But a key point Dr. Kramer emphasizes is that most screening tests are a closer call than previously thought.
For too long we have relegated messages about screening to sound bites, simply convincing people that if you picked up a cancer when you didn't have any symptoms that was necessarily a good thing.
But we're learning more and more about the harms and so and it's a closer call than we often like to think.
He recommends that people carefully weigh and discuss the benefits and risks of cancer screening.
I think that the public should be aware of the trade-offs and if they're going to ask their doctor they should come armed with a set of questions.
And that is what are the harms of the actual test? What are the benefits of having the test? How strong is the evidence? What is the magnitude of the benefits?
For more information about cancer screening and to get details about measuring the effectiveness of cancer screening tests and weighing the evidence from screening research studies, visit cancer.gov.
For NIH radio this is Joe Bolin-P.
One of the heartbreaking things about cancer screening is that sometimes you find cancer where you'd least expect it.
Terry Lazara found that out when she learned that a loved one had less than a year to live.
In this essay she wrote about the experience, Terry tells us about her family after finding out her teenage cousin was terminally ill.
Have you ever had a 13 year old ask you if she was going to die? I have.
It's an experience I hope no one ever has to go through. One that has taught me faith and strength I never thought I had.
When you find out if family member is sick and nothing can be done to help them, your whole perspective on life changes.
You focus on the day, taking nothing for granted and living that moment. This is something I've come to realize and appreciate more and more each day.
In July my little cousin Jasmine was diagnosed with malignant nerve sheath cancer. It paralyzed her from the waist down.
My family never left her side as she underwent months of agonizing treatments causing her nausea, loss of hair and third degree burns on her back from the radiation.
After five long months it was time for her to come home. I can never forget the smile she had on her face coming through the door.
A smile that never seemed to fade even after all she had been through.
She was home, her treatments were over and as far as the doctors knew her cancer was gone.
They just had to do one more test in a month to make sure. One more test that would change my family's life forever.
I remember that day so clearly. Christmas was over and you couldn't even walk in Jasmine's house without tripping over toys.
My mom, my cousin Lacey, her husband and I all sat on the couch waiting for Jasmine and her mom Beth to return with some good news about her tests.
We waited what seemed like hours and then finally the door opened. As soon as Beth walked in I could tell something was wrong.
Not only was her face lifeless but Jasmine was not with her. She tried taking another step and collapsed to the floor.
And through each breathless sob told us the cancer was back and spreading fast. Everyone around was crying but I wasn't.
The sadness in me was being suppressed by the sickness and anger I felt. I was so angry that I got it from the couch and ran outside.
I didn't want to be around anyone. I sat on the ground, my arms holding my knees to my chest.
I was so mentally numb that I couldn't even feel the wetness of the snow soaking through my clothes.
This was the worst day of my life and I wasn't even the one who was sick. I was mad at the doctors. I was mad at the stupid cancer.
But most of all, I was mad at God. I've been through many losses in my life and most of them took cancer. But this one hit me hard.
Why a 13 year old? What did she do wrong? Why my family?
So many questions ran through my head and still are. I didn't think that my family or I would ever be happy again.
But Jasmine's strength and positive attitude made us all come to realize that even something so horrible and unfair shouldn't keep us from cherishing each day we did have together.
Although she is sick and becoming weaker every day, she has never stopped smiling. She has always loved life and is just loving it more now.
It's hard not to grin when looking at her. She lights up the room.
Even from the beginning, she has never lost her hope and she goes after everything she wants. It is because of her that we take it one day at a time.
We want her to love each day what she does and also to experience as much as she can.
Thanks to the Make-A-Wish Foundation, her biggest dream became a reality. She met her idol, her love, Justin Bieber.
Too many teenage girls, he is their obsession. But to Jasmine, he is a way of life. Not only is her room and all of her hospital rooms covered in Bieber pictures.
But so is her wheelchair and even her toothbrush sings Bieber songs. She truly is his number one fan.
The day she got to meet him, her ultimate wish came true. No one or nothing, not even the cancer could keep her excitement from showing.
Words could not describe her happiness that meeting Justin Bieber brought her.
That day she no longer saw herself as sick. But as a lucky girl in the world, it amazed me that she, the person that was going through all of this would consider herself lucky.
It was at that moment that I realized how strong she was. She wasn't worrying about the future. She was living for the day.
Her strength and positive attitude was rubbing off on everyone, my family, our friends, and most of all, me.
We no longer worry about what the future will bring for her, but live every day till it's fullest. Take nothing for granted and live in the moment.
Terry Lizara is a senior communication major at Western New England University.
That's all the time we have for this week's Health Show. If you'd like to listen again, join us online at healthshow.org.
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I'm Bob Barrett. And I'm Dr. Nina Sacks. Stay healthy and be sure to join us next time for another edition of the Health Show.
Dr. Nina Sacks is a practicing member of the American College of Gastroenterology. Bob Barrett is producer of the Health Show. Dr. Alan Chartock is executive producer.
The Health Show is a presentation of national productions which is solely responsible for its content.
