Family Matters

What Your Doctor Isn’t Telling You About Your DNA

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Miller Mobley / Redux for TIME

At the Children's Hospital of Philadelphia, Nancy Spinner and her husband, Dr. Ian Krantz, wonder how much parents want to know about their children's genetic future.

The test results were crystal clear, and still the doctors didn’t know what to do. A sick baby whose genome was analyzed at the Children’s Hospital of Philadelphia turned out to possess a genetic mutation that indicated dementia would likely take root around age 40. But that lab result was completely unrelated to the reason the baby’s DNA was being tested, leaving the doctors to debate: Should they share the bad news?

When it comes to scanning DNA or sequencing the genome — reading the entire genetic code — what to do with unanticipated results is one of the thorniest issues confronting the medical community. Many conflicted discussions followed the dementia discovery at the Children’s Hospital of Philadelphia (CHOP) before a decision was reached: the parents would not be told that this fatal memory-sapping disease likely lurks in their child’s future. Given the hopelessness of the situation, with no treatment and no cure, the doctors said forwarding such information along felt pointless. “We came around to the realization that we could not divulge that information,” says Nancy Spinner, who directs the hospital laboratory that tested the infant. “One of the basic principles of medicine is to do no harm.”

The fourth in a five-part series exploring the promise and pitfalls of sequencing children’s genomes

Around the same time, Spinner’s lab also tested another child — an unusually short 2-year-old referred for kidney disease — and discovered the toddler had a gene linked to a rare form of colon cancer. In some cases, polyps arising from this kind of cancer have been known to develop as early as age 7. This time, the decision to inform the parents was easier: “We feel good about that one,” says Spinner. “Proper screening can make a huge difference.”

Across the country, a small but growing number of doctors are turning to increasingly sensitive genomic tests to pinpoint the root causes of young patients’ mystifying symptoms. But many still don’t know how to handle results unrelated to the ailments that prompted such sequencing. “If you’re looking in the area of chromosome 17 and BRCA1  [a breast-cancer gene] is nearby, you can’t ignore it,” says Barbara Bowles Biesecker, director of the genetic-counseling program at the National Human Genome Research Institute (NHGRI), which is housed on the campus of the National Institutes of Health. “What are you going to do, put blinders on and not look to the left?”

(MORE: Read TIME’s complete series on DNA testing and children)

Encountering all these unexpected results has called into question the traditional approach to bioethics—to share unexpected findings only if they’re life threatening or treatable. “We think that premise is nonsense,” says Misha Angrist of the Duke Institute for Genome Sciences & Policy. Angrist was among the first people to have his genome sequenced in 2009 as part of the Personal Genome Project, which aspires to publish the genetic codes of 100,000 volunteers as a way to boost research into personalized medicine. “Parents should be given access to this information that’s derived from their bodies and their children’s bodies. This information is for everyone. It’s scary because we have chosen to make it scary. We exacerbate it by treating it like the bogeyman.”

As the price of sequencing keeps dropping—it can be done today for as little as $7,500 and there’s talk of a $1,000 genome in the future—many doctors are bracing for the day when large numbers of healthy people start sequencing their genomes. Some worry the trend will translate into mass anxiety over ominous or unclear results.

Perhaps nowhere is the risk of overreaction greater than when it concerns prenatal testing. In June, the University of Washington (UW) announced it had sequenced a fetal genome with 98% accuracy. Consider: If you were to learn your unborn baby had a genetic marker for cancer, might you abort? But markers are not guarantees, notes bioethicist Tom Murray, a visiting scholar at Yale. “Great, we can sequence the genome of a fetus. What the hell does it tell us?” he says. “Much less than most people probably believe. Probabilities are not the same as certainties.”

As sequencing moves from the realm of research labs into doctors’ offices, the medical community is rushing to hammer out guidelines. The American College of Obstetricians and Gynecologists recently discouraged the use of personalized genomic tests to gauge disease risk. “Although genetic profile tests may prove to be important tools in the future, they are not ready for prime time,” the group said in May. Meanwhile, the American Academy of Pediatrics advises that “in the absence of clearly beneficial treatments or effective preventive strategies, genetic testing of children and adolescents may not be justified.” Knowing about disease risk “would almost certainly have an impact on how that parent interacts with that child and how they think about that child’s future,” says Joy Boyer, a senior program analyst at NHGRI, which is devoting $19 million this year to examining the ethical, legal and social implications—or ELSI, for short—of genomic research.

It didn’t take millions of dollars in research for breast-cancer survivor Debbie Horwitz to reach that same conclusion. Horwitz, a mother of two in Raleigh, N.C., tested positive a few years ago for the breast cancer gene. She was hell-bent on testing her then-infant daughter, Jordan,until her husband talked her out of it. She now supports the decision. “I don’t think it’s fair for us to have that information now and have that heaviness in our family or in how we relate to Jordan,” says Horwitz. “I think knowing whether Jordan is positive or negative would also cause a lot of tension and sadness in our family.”

Creating Genomic Standards

Genomics isn’t the first emerging technology to wrestle with ELSI issues. New prenatal tests can detect Down syndrome as early as 10 weeks into pregnancy, which has led some to worry that more women will simply abort and try again. Similarly, there are no prohibitions against hand-picking embryos based on gender nor the creation of a “sibling savior” — a baby conceived as a genetic match for a sick brother or sister in need of healthy stem cells. “Whenever there’s a new evolving technology, we have to decide whether existing approaches to oversight ought to apply or whether we need novel ways to address novel technologies,” says Jeffrey Kahn, a professor of bioethics and public policy at Johns Hopkins University.

Notes Dr. Wylie Burke, a geneticist who chairs the Department of Bioethics and Humanities at UW: “If we open the door to a test that has no clear, well-defined purpose, that is a recipe for unnecessary medical care. Instead, we could say, here are the 1,000 mutations we should check in everyone.”

The American College of Medical Genetics and Genomics is working on just that, painstakingly assembling a list of a few dozen conditions that it says should be routinely looked for during genome sequencing. “We are struggling with this,” says Dr. Robert Green, a medical geneticist at Harvard Medical School, who is co-chairing the group developing the list. “If you fall off your bike and get an X-ray looking for a fractured rib, the radiologist scans the entire X-ray and automatically reports back to your doctor if something else is going on. More than a few cancers have gotten picked up this way. The problem with genomics is that everyone could have incidental findings.”

(MORE: A Photo Tour of a Genetic Testing Lab)

In March, Green presented a draft list at a conference, where participants pelted him with questions. Lab directors asked if the list would be mandatory. Geneticists wanted to know if the recommendations for children would differ from those for adults. Others inquired whether patients would meet with genetic counselors before learning about disturbing results. “People had strong opinions,” says Green. “These questions are on everyone’s mind.”

There’s another question being asked too: what should be done with genomic transcripts so massive that labs typically FedEx hard drives filled with data? All that information overload is complicated by a steady stream of new genetic discoveries; sequencing results that are head-scratchers today could be meaningful tomorrow.

Three years ago, Dr. Mike Bamshad, chief of genetic medicine at Seattle Children’s Hospital, and his colleagues at UW were the first to sequence all the genes of a family: mom, dad and their two children. The sequencing was a success—the team discovered a new gene for a condition called Miller syndrome—but they also discovered genetic changes that caused other diseases in the family. Some members of the family wanted these results, others didn’t and, over time, some changed their mind about what they wanted. Bamshad recalls that explaining and sharing each potential finding and returning every last result to the family took too long. “We can’t do this,” he told his colleagues at the time. “We need to find a way to give people a way to choose the results they want and do it in a private, convenient way.”

Out of that experience emerged My46, a web-based solution to the problem of what to do with the deluge of data generated by sequencing. Named after the number of chromosomes in human DNA, the non-profit My46 allows people to store their sequencing results online and choose what they want to know and when. For example, parents of a baby who gets sequenced could opt to learn right away any findings about childhood diseases and put everything else—from unclear results to increased risks of adult-onset diseases—inside the digital equivalent of a locked drawer, where it can be stored forever and accessed whenever they want to open it.

My46 is now in the testing phase; early users are part of a study to assess, among other things, how strong the temptation is to look in, say, the cancer drawer and how parents react when they find out their baby is likely to develop a disease later in life.

How Much Information Is Too Much?

Spinner has thought deeply about those reactions, not only in terms of other people’s children but also through the prism of her own three kids.

She thinks doctors should not divulge that a child is at greater risk for an illness if it can’t be treated or prevented. She says she wouldn’t want to know that information about her own children. Meanwhile, her husband, Dr. Ian Krantz, a pediatrician at CHOP, says he might be up for sequencing himself and learning everything. The couple has teamed up to analyze the ethical implications of sequencing children, and in January they will begin enrolling the first of 240 families in their study. In preliminary focus groups held to gauge parents’ attitudes toward unanticipated findings, nearly all the parents said they would be eager to know about every potential disease risk, even if there is no available treatment.

Those attitudes contradict the opinions voiced in other focus groups by bioethicists, lab directors, doctors and genetic counselors, most of whom said that only results that could be immediately acted upon should be shared with families. “The genetics community is anxious to do the right thing by families,” says Spinner, “but what the right thing is isn’t exactly clear.”

This ambiguity haunts Spinner — particularly when it comes to scenarios like the baby who is likely to develop early-onset dementia. “That gene wasn’t on my radar,” she says. “Whenever it comes up, I can feel my anxiety rising.” Through the years, Spinner has gotten used to communicating less-than-cheerful news, but this time the burden felt different, heavier. “In my lab, we diagnose a lot of bad things that tell parents right away that their child will not have the life they’d hoped,” she says. Since there’s nothing to be done to alter the outcome in this baby’s case, the parents will remain oblivious to the misery that seems to lie ahead.

Will the parents ever think to inquire about the unexpected findings of their child’s analysis? Probably not. But either way, the data is all there, saved for posterity in the lab’s private files, its genetic secret untold.

This is the fourth in a five-part series exploring the promise and pitfalls of sequencing children’s genomes. Read the full series.

MORE: How Exercise Can Change Your DNA

21 comments
MollyFields
MollyFields

If there is a good reason to suspect that a child is going to need expensive care later in life, the parents need to know.  They can make better financial plans for that child.  How is a 40 year old going to get the care that he/she needs when 24/7 care is needed?  I work with older adults, many who have dementia, and it is incredibly expensive to provide good care.

govett
govett

Equally important is the epigenome, that is, which genes are turned on at any time. Without that knowledge, genomic information is of limited value. So when you sacrifice your baby because of its suboptimal genome, know that the lurking disorders might have never appeared and you have ended a life for no good reason.

VincentLovece
VincentLovece

Withholding information that is later discovered can probably be construed as grounds for a malpractice suit.

dobermanmacleod
dobermanmacleod

Hopefully, as people learn (or their loved ones) are walking wounded with DNA ticking time bombs, they will demand science cure them of these diseases through genetic manipulation.  Now, that is considered unethical to alter DNA in humans going forward.  Eugenics meets health. 

Vagaries
Vagaries

Raising children is $$$ and time-consuming.  In vitro fertilization, followed by genetic sequencing of the result -- seems it's inevitable to allow caregivers to select the offspring with the "preferred" profile.

EAGLE13
EAGLE13

So...these parents don't know they need to plan. Won't set up a trust fund. Won't carry extra insurance into retirement to goose the inheritance. Can't make sure there's long term health care insurance. Can't keep an eye on progress in genetic therapy. Won't know to consider this for another pregnancy. Sheer malpractice.

GaryMcCray
GaryMcCray

Many issues are reasonable arguable from 2 sides. 

This one isn't.

Very simply, significant information arbitrarily withheld from patients by doctors or staff is always wrong.

GaryMcCray
GaryMcCray

The thought that the doctors get to make the decision as to what information to share IS the problem.

Once the test results are in, it is their absolute duty to provide whatever information they have uncovered to the patient or to the responsible person in the case of a child.

To do otherwise is to play God and to literally play dice with the life of the person they are treating.

It should NEVER be acceptable for doctors to selectively withhold information about a persons health or possible future problems and they should be subject to massive Malpractice law suits should they choose to do so.

If an individual knows of a problem they can decide how they want to confront it.

If significant information is withheld from a patient then the doctor has taken that ability to decide what to do away from them and made it his own.

Restrepo
Restrepo

"New prenatal tests can detect Down syndrome as early as 10 weeks into pregnancy, which has led some to worry that more women will simply abort and try again. "  Who "simply" makes the choice to abort?  Very poor choice of words.

LesMoore
LesMoore

"It's scary, because we choose to make it scary."  No it's scary, because my former health insurance company already refuses to pay for anything - that's why I dropped coverage.

BobDevaughn
BobDevaughn

Not wanting to be the bearer of bad news is not an ethically sound basis for withholding personal information from an individual.

If you told me as a child that I might develop some degenerative disease at the age of 40, that may very well effect my choice of profession- I might decide to go into medical research. I might try to use my productive years to solve my problem. I might also forgo this in an attempt to get the most out of the shortened time I would likely have. The point is, it would very likely effect how I choose to spend my time.Its incredibly presumptive to make any assumption about the value of such information to an individual. Its also incredibly presumptive to assume that a disease that we cannot treat today will not be treatable in 40 years when the symptoms might begin to take hold. The only thing that is certain is that by knowing and not sharing this information, you are removing the possibility of the individual or family donating to, or otherwise supporting efforts to combat the illness.Imagine you were walking down the street and glanced up and saw an neighbor's infant perched on the ledge of a tall building. Would you tell the parents that their child is in danger, knowing that the child may very well fall at any moment? It really is as clear cut as that.

SueKeller
SueKeller

Down Syndrome is not cancer. It is repugnant to cast DS in the same light as a disease. What gets lost in the labs and doctors' offices is that people with DS are people first. Please stop presuming that every mother and father who is the parent of a child with DS will want to abort. Parents are not given enough information to give their "informed consent" on whether or not termination is what they really want to do. Many, if not most of them, who do choose to abort haven't even met a person with DS before. We talk about how good diversity is and how it strengthens our society. But so few really believe that diversity is desirable within their own family....

CarlZ
CarlZ

@GaryMcCray  If maximizing choice is the ideal here (which I think it should be), wouldn't it make more sense to give the family the option of being told about potential problems. You mention that it is a doctor's duty to tell the family, but what if a family does not want to know? Many couples choose to forego finding out the sex of their child before they are born. If we really want to give families greater choice, wouldn't the solution be to ask, BEFORE a genetic test is carried out, how much information on potential disorders the family would like to receive? It seems to me like a better decision than either withholding or divulging everything.

GaryMcCray
GaryMcCray

@Restrepo 

And what is wrong if that is what they choose to do.

It would be their decision and based on their religious and moral concepts.

In any case, withholding the information is certainly allowing the responsible doctors to superimpose their own moral or religious values on top of the people who they are responsible for caring for and THAT is unacceptable.

adnan7631
adnan7631

No, you can still find out about that information later and then turn to a life of medical research or make donations or something. But genetic markers are merely information on statistics. It does not mean all that much. By age 40, the patient may or may not actually develop dementia. Nature vs. Nurture applies to his chances. Epigenetics (the study of how other factors than DNA affect how the body expresses it's DNA) applies, and frankly, we know extremely little about it, except that it is extremely important. So, back to my point, what happens if this patient is raised to think that he will lose his mind at age 40, but it never happens. What kind of a childhood would a person who has parents that know that have? I'd imagine it wouldn't be a normal life. And that is against the oath to do no harm. 

adnan7631
adnan7631

@SueKeller Are you implying that it is a GOOD thing for a child to have Down Syndromes? Frankly speaking, it IS a terrible disease. It isn't merely about diversity. It becomes something that totally changes a family, for the worse in most ways. Yes, it teaches the family about disabilities and creates compassion for them etc., all good things. But what about the costs of care? What about the fact that this child will have to have considerably more care than the other children in the family? What about the fact that this child will NEVER have anything fairly close to a normal life. Nobody will ever tell them that they can be whatever they want (or they would be saying a grossly huge lie). This is a person who likely will never be able to live on their own. I am, in noway, condoning aborting a child because he has DS. But it is ignorant to not understand WHY a family would consider that (there was actually a Time article on it sometime ago, maybe you could find it). You said people with DS are people first. Well, people with cancer are also people first, except they are curable people. 

Fatesrider
Fatesrider

@SueKeller Inasmuch as you have a certain validity to your point of view - that DS people are certainly people - I do take exception to the notion that diversity in PEOPLE is a strength.  A group that is focused on a goal is far more effective than one which goes in all directions.  As un-PC to say it as it is, people in the U.S. (and everywhere else when allowed to) self segregate by creating communities wherein their race, culture, language and traditions are similar.  The "melting pot" of the country precipitates out our individual cultures instead of melting them together because as of this last century those who come to America have more strongly clung to their cultures and replicated them here than before.  Another aspect is that immigration to the United States is less Euro-centric than it was in the past.  Commonalities unite people.  As long as we push that which is "different" (Diversity means differences), we will never see beyond those differences.  I don't believe in celebrating diversity at all.  I believe in celebrating unity - those much more numerous things which we have in common.

It seems to me to be a more productive approach to the inherent way people tend to clump together.

As for the article, I believe it's more ethical to inform people of their findings than keeping them secret.  Today's world may not have a cure for some of these things, but tomorrow's world might.  Without knowing that one needs to seek these cures, one may end up dying prematurely from a condition or disease that COULD have been treated had they known about the need earlier.

GaryMcCray
GaryMcCray

@CarlZ @GaryMcCray 

Nonsense, there is no need to ask before a test is carried out how much information the patient / family wants and what it would like to be withheld.

Once a test has been made, it is perhaps conceivable that they could be asked if they would like to have information not relevant to their performing the test in the first place withheld, but who would choose such a stupid option.

Not wanting to know the sex of your unborn child so you can be "surprised" is one thing but knowingly not getting information that can be important to the rest of your life and how you choose to live it is not something any sane person would choose to do.

And that isn't the issue in any case, the issue is doctors arbitrarily deciding for patients and families.

That isn't their job.

BobDevaughn
BobDevaughn

@adnan7631 The Hippocratic oath to "do no harm," is obviously meant to steer a doctor's intentions, and is not a practical standard for care- doctors do harm all the time, presumably accidentally.I'd also imagine when the patient was being told of the possibility of developing a disease, the doctors wouldn't just throw their methodology out the window. I imagine they would express it as a probability, highlighting external risk factors and potential early indicators.The point is, if you are my doctor and you know something about my physiology- especially something potentially harmful- you have the responsibility to convey that to me. As a patient I have the right to make decisions fully informed by my doctor's understanding. 

SueKeller
SueKeller

Get back to me when you actually know someone with DS....

Re your last sentence, not all cancer is curable. Ask your doctor.

SueKeller
SueKeller

Interesting points but I was really only commenting about people with DS and the presumption by the majority of doctors that termination of pregnancy is what all parents want, as well as the lack of information to parents about what children and adults with DS are really like....