Tag Archives: newborn screening

Albatross

Ah! well a-day! what evil looks
Had I from old and young!
Instead of the cross, the Albatross

About my neck was hung.

And till my ghastly tale is told,

This heart within me burns

He went like one that hath been stunned,
And is of sense forlorn:
A sadder and a wiser man,

He rose the morrow morn.

- Excerpts from The Rime of The Ancient Mariner, by Samuel Taylor Coleridge

Eugenics. I can hear the thud as the collective eyes of genetic counselors roll heavily at the mention of the E-word.  That finger has been wagged in our faces ad infinitum. Alright already, we have learned our lesson from this shameful past. That was like more than half a century ago. Do we have to still keep apologizing for something we never did? Enough with the hand-wringing and perseveration. We’ve smoked this one down to the filter.

Well, no, apparently we are not done. As historian of medical genetics Nathaniel Comfort has pointed out in a recent thoughtful Genotopia blog (with an equally thoughtful commentary by Alex Stern, the biographer of our profession), eugenics discussions are back with us. We need to keep having the discussion because apparently we are not sadder and wiser people this morn. Some even think – with great hubris, in my view – that with our supposedly greater wisdom and technological advances, maybe some version of eugenics is not such a bad idea after all.

I am not going to repeat Nathaniel’s and Alex’s arguments here; visit the Genotopia blog and read the originals. What I want to do is to offer a  framework for thinking about the issues raised by these historians and introduce the concept of genetic discrimination into the mix.

Genetic discrimination, in my definition, is discrimination based on a person’s presumed or actual genotype and it’s presumed or actual phenotypic expression. The word discrimination comes from  the Late Latin discriminationem, meaning “to make distinctions” and can have both negative and positive connotations. Racial and gender discrimination that results in suffering and inequity is bad. But a discriminating person is one who shows great taste for fine things. Not to try to dance too many angels and devils on the head of this pin, but perhaps when discrimination has a negative effect, it could be called dyscrimination.

Eugenics, then, can be viewed as a form of negative genetic discrimination, the goal of which is to improve the genetic health (whatever that means) of future generations.

Prenatal diagnosis, the usual aim of eugenic critiques, is not eugenic because it does not try to alter allele frequencies of future generations. Down syndrome is almost never an inherited disorder, and people with Down syndrome rarely reproduce. Prenatal diagnosis is not an attempt at “the self direction of human evolution,” as the 1921 Second International Eugenics Congress defined eugenics.  But from the standpoint of some, prenatal diagnosis is a form of negative genetic discrimination – fetuses are discriminated against because of their genome and the common but inaccurate perception of the Down syndrome phenotype as a backward child with a heart defect but a pleasant personality. Although the insensitive term mongolism is rare these days, the common image of “the Mongol child” has not evolved as much as it should have.

Pre- or early pregnancy screening of parents for mutation carrier status for various genetic conditions, on the other hand, might rightfully come under eugenic criticism since its explicit goal is to improve the genetic health of future generations and to wipe out genetic diseases by preventing the conception of homozygous recessive offspring. Never mind the nonsense spewed forth on some websites; carrier screening usually has very little to do with improving the health and quality of life of babies who are born with genetic conditions. Carrier screening can result in reduced suffering if fewer children are born with life threatening or medically serious disorders but it rarely improves the health of babies who are born with those conditions. Whether this is a “good” or a “bad” form of eugenics, and how commercial laboratories advertise their product, are questions open to healthy debate.

Newborn screening, as it is currently practiced, is not eugenic because its intent is to improve the health of a child by treating the presumed phenotype based on the genotype. Newborn screening could thus be viewed as a positive form of discrimination, albeit one with flaws that we are not comfortable acknowledging . But newborn screening can also be viewed as negative genetic discrimination, depending on the condition being screened for. Some people who are deaf have raised serious concerns about screening newborns for hearing loss.

Genetic screening for adult onset disorders like Lynch syndrome or familial hypercholesterolemia may be positive genetic discrimination. The goal of this screening is to treat the phenotype based on the genotype with the hope of reducing the incidence of serious, life-threatening diseases or to mitigate their effects. Dietary changes, treatment with statins, high risk cancer screening, and surgery are strategies that are offered to people at increased hereditary risk of developing these diseases. Of course, if there were to be widespread preimplantation or prenatal diagnosis for these conditions, then we should rightly raise eugenic questions.

Why make these distinctions? Because the word eugenics has become an angry accusation that ends discussions. The social effects of genetic medicine and genetic counseling should always be open to vigorous scrutiny but the criticism needs to be accurate and sensitive to nuance. Maybe some of what we genetic counselors do is eugenic, and maybe under certain situations, this may not be as terrible as it sounds. And maybe some of what we do is dyscriminatory but not eugenic; we need to understand why it is dyscriminatory so we can do something about it. And maybe lots of what we do is very helpful for many people and not particularly eugenic. To cram all of medical genetics into a eugenic framework prevents any progress from ever being made. The two sides start to resemble Democrats and Republikans in a dysfunctional Congress, never able to engage in meaningful debate. Let’s get this albatross off our necks.

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Resistance Is Futile: A New Paradigm for Genetic Counseling?

For with this detection there arises new lines of approach in the field of preventive medicine, and the sociological consequences may be far-reaching.

- James V. Neel, from his 1948 plenary lecture, “The Detection of The Genetic Carriers of Hereditary Disease”, delivered at the first annual conference of the Human Genetics Society of America (which eventually changed its name to the American Society of Human Genetics)

The technical advances in genetic testing over the last 5 years have been stunning. Much of what I thought of as Not Going To Happen For A Long Time  has now happened yesterday. Along with these breakthroughs is the unstated but increasingly common suggestion that everyone should taste the fruit of testing in Gregor’s Genetic Garden of Eden.

In the old days (like a year or two ago) only a small portion of the patient population were thought to be candidates for genetic testing, those for whom it made medical sense and who were emotionally ready for the ramifications of the knowledge. Genetic counselors used their skills to help patients select the appropriate test and to guide them through the clinically, emotionally, and financially complicated decision-making process. Some chose to undergo testing while others delayed or declined it. We did not really care what patients chose to do; our role was to go through the wringer with them.

Now, though, this model of genetic testing only for the select few may be replaced in the near future by the idea that everyone – healthy, sick, high risk, low risk – should have genetic testing. Population scale genetic testing, with its promises of personally tailored medical care and better health outcomes, assumes that everyone – except for a handful of Luddites, people who do not own mobile phones or have Twitter accounts, Flower Children, and conspiracy theorists – will incorporate DNA into their routine medical care. Genetic testing becomes a foregone conclusion, not an ethically and emotionally weighty matter to be carefully explored and considered. If everyone has a genetic test and everyone carries gene mutations, doesn’t that make everyone a patient?

Think I am overstating my case? Perhaps. Then again, recall the many professional and popular articles you have read that are variations on this theme: The time is near when you will walk into your doctor’s office with an inexpensive DNA Chip that contains your entire genome and that will guide your doctor in choosing the best medications for you and select the most effective screening tests. You will live to be 100, enjoy a lusty sex life, and have healthy children. While the $1000 genome may not be a shining example of truth in advertising, affordable genetic testing is upon us.

A second case in point is the introduction of cheap carrier testing for a huge number of mostly obscure genetic conditions, what has come to be called Universal Carrier Screening. I will risk stating the obvious and point out that the word “universal” implies that the test is for everyone. At $99, it is hard to say no.

A third case in point is newborn screening, which is as close as it gets to universal genetic testing. The conditions screened for with those heel sticks continues to increase but the primary justification is not “treatment before symptoms develop.” Rather, testing is predicated on reducing the number of families caught in The Diagnostic Odyssey, that emotionally and financially draining parental journey to find out what medical disorder their child may have. Based on this premise, there is no logical stopping point for including disorders in a newborn panel. Every genetic disease is a potential source of a diagnostic odyssey. In fact, the rarer the syndrome, the better it is for inclusion in newborn screening since uncommon conditions are less likely to be diagnosed by most practitioners.

Another area of pervasive genetic testing is the recommendation for universal fetal aneuploidy screening during pregnancy, made even more tempting by high detection/low false positive non-invasive tests.

Genetic screening is offered to everyone prior to conception, during pregnancy, and at birth. Testing all adults allows the rest of the camel into the tent.

Genetic counselors are not the driving force behind universal genetic testing, although undoubtedly we have some complicated role. As I have discussed elsewhere, we probably have less influence on patients’ decisions than we  think. Larger social, economic, and ethical forces are at play, in much the same way that the introduction of amniocentesis, newborn and carrier screening, and the birth of the genetic counseling profession were all products of their times.

The role of genetic counseling when it comes to genetic testing, then, may no longer be primarily to help patients make decisions. Instead, genetic counselors may become Phenotype Counselors who interpret and integrate results of genetic tests that were run – and possibly chosen through online services – before patients walked into our offices.

Ilana Löwy’s book “Preventive Strikes: Women, Precancer, and Prophylactic Surgery”

If I am right, genetic counselors are likely to encounter controversies and dilemmas. Ethical values like nondirectiveness and autonomy become less forceful if individually tailored health strategies can help prevent or attenuate serious illness. Think of how many  oncologists consider their high risk cancer patients crazy for not having BRCA testing or believe that known BRCA mutation carriers are making poor choices for not undergoing risk-reducing surgeries.

Eugenic concerns, the voice and dignity of the disability community, the psychological sequelae of coping with test results, and worries about the other downsides of genetic testing may be pushed to the wayside by the power of the still unproven assumption that medical spending will become more cost-effective, clinical decisions will be wiser, and everyone will be healthier if their genomes are analyzed. In fact, people with disabilities themselves will likely see some treatment and diagnostic benefits from genomic testing. And because laboratories and lab-based counselors will likely play critical roles, defining and protecting against conflict of interest becomes even more critical and complex.

Both good and bad will come out of universal DNA testing, though it is difficult to predict what measure of each. But so much genetic information available on so many people must give one pause. The history of genetics demonstrates that every advance in genetics is fraught with social complexity and dangers. We may have a more sophisticated knowledge of genetics than our predecessors, but we are neither wiser nor more ethical.

I  close by reminding you that knowing our past helps us better understand why we are here and what may happen if we go there. To that end, let me bring to your attention two recently published books about the history of genetic counseling and the history of medical genetics: Telling Genes: The Story of Genetic Counseling in America by Alex Stern (The Johns Hopkins Univ. Press, 2012) and The Science of Human Perfection: How Genes Became the Heart of American Medicine by Nathaniel Comfort (Yale Univ. Press, 2012). The authors, my good friends and colleagues, provide an informed and critical historical understanding of  genetic counseling and genetic medicine. Everyone should read these books. It will do your souls – and your counseling philosophy – good.

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Guest Post: Letter to the Editor, CNN

Suzanna Schott has been a prenatal and pediatric outreach genetic counselor in New Mexico for the last 4 years.  She was trained at JHU-NHGRI, and prior to that was a graphic designer in Atlanta, Georgia, her home town.  She is interested in representations of genetics in the media, and is a frequent writer of letters to the editor.

Ms. Elizabeth Cohen

Senior Medical Correspondent

CNN

Dear Ms. Cohen,

As a genetic counselor, it is my job to advocate for patients and families, help them interpret complex scientific information, consider the personal and ethical implications of genetic testing, and facilitate difficult medical decision-making.  I therefore appreciate your efforts to raise awareness of public health genetic screening practices and potential concerns about privacy and misuse (Elizabeth Cohen, “The government has your baby’s DNA,” cnn.com February 4, 2010.)  However, I was very concerned to see serious misinformation in your report about the nature of the screening and the potential risks involved.

I agree that parents have legitimate concerns about consent, privacy and potential misuse of testing samples.  Unfortunately, your report provided very few facts or evidence relevant to whether privacy violations and surreptitious testing have actually occurred.  Instead, your story sensationalized unrelated and unfounded concerns, which I am afraid will unduly influence families to avoid a test that can actually save lives.  Indeed, based on the online public comments, your article has left many readers ready to believe that every aspect of newborn screening is an illicit and irresponsible ploy by the government.  I must take issue with three assumptions in your report that I think led to these misunderstandings.

First, you suggest that newborn screening will identify children with diseases that would not otherwise be diagnosed, putting a permanent blemish in the medical record that could have been avoided.  Unfortunately, the fact is that the conditions detected on the newborn screen are typically so severe that even without newborn screening, an affected child would eventually require significant medical treatment resulting in the diagnosis in the medical record.  The problem with delaying diagnosis until symptoms appear is that it is often too late at that point for medical intervention to make a real difference. Babies with these conditions may appear healthy and normal at birth, while irreversible damage is silently occurring in the brain and other organs.

The second assumption that you make is that identification of these diseases puts children at risk for insurance or employment discrimination.  While genetic discrimination is a theoretical risk, I believe that your report grossly exaggerates this possibility.  Again, a diagnosis based on newborn screening is no more likely to result in discrimination than a diagnosis based on symptoms.  It is true that newborn screening can sometimes identify individuals who only carry a genetic difference associated with a disease, but are not affected with a disease.  Genetic carrier status has no effect on an individual’s long-term health and does not require treatment.  Therefore, carrier status does not cost an individual’s insurance company anything.  Nor does carrier status create any disability that would affect one’s performance at work.  Therefore the risk of insurance discrimination is very low, and in fact, actual cases of discrimination based on genetic testing results are very few and far between.

Nevertheless, there is a federal law called the Genetic Information Non-Discrimination Act (GINA) which prohibits health insurance and employment discrimination based on genetic information, and which your report entirely neglected to mention.  While there are limits to the protections provided by the law (see http://www.genome.gov/24519851 and http://www.dnapolicy.org/), GINA was specifically written to allow families to feel less afraid of having medically necessary genetic testing.  In addition, another federal law called the Health Insurance Portability and Accountability Act (HIPAA) provides strict controls on the types of medical information that can be shared with non-health care providers, including information related to newborn screening and residual samples.  If a parent truly feels that their child’s medical privacy rights have been violated by newborn screening protocols, there are outlets for reporting that (see http://www.hipaa.ihs.gov/index.cfm?module=faq).

Finally, the third concern I have with your report is the suggestion that the government will surreptitiously begin adding tests to the newborn screening for common conditions like mental illness or diabetes.  Again, in my opinion, your report greatly exaggerates this risk.  Many of us are frightened of science-fiction scenarios in which babies are genetically labeled and sorted.  However, the goal of newborn screening is early treatment, not eradication of genetic traits or labeling of adult onset disease.  Your readers may be relieved to know that there are very stringent criteria for inclusion of a condition on newborn screening panels.  Committees of medical and ethical experts have carefully considered how common a disease is, how severe it is, and whether early diagnosis and treatment will make any difference before including a condition on the test panel.  Your readers should know that much of the movement to implement newborn screening did not come from government bureaucrats, but from families who have witnessed first hand the difference that newborn screening can make.

Certainly, as a society we should be debating the uses of genetic technology, including what conditions are included on testing panels, who gets to decide, who has access to our genetic information and how is it used.  I also concede that we health care providers can be doing a better job to make sure parents fully understand newborn screening, ahead of time, and have the opportunity to opt out of both testing and storage of DNA.  But make no mistake, newborn screening has saved lives, reduced suffering, and contributed to genetic and public health research.  I believe that most thoughtful parents, armed with balanced and complete information, would agree that the benefits of newborn screening far outweigh the risks, to both their children and the community at large.

Your report would have been less alarming and more informative for your audience if it had included more facts and less speculation.  For future stories on genetics, I encourage you to utilize the professionals in the American College of Medical Genetics (see http://www.acmg.net) and the National Society of Genetic Counselors (see http://www.nsgc.org) to both deepen and broaden your discussion of the issues.

Sincerely,

Suzanna Schott, ScM-LCGC

Licensed Certified Genetic Counselor

Albuquerque, New Mexico


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Glenn Beck Hates Babies: Death Panels, Newborn Screening, Fox News and Me

 “You are from the Glenn Beck Show?” I asked. My voice betrayed what for lack of a nicer word might be called skepticism.

 “The Glenn Beck Show,” she answered, her tone sliding past defensive into a smug I-know-what-you-are-thinking defiance that reminded me wordlessly of Fox News’ Nielsen dominance.  “We were wondering if you would like to come on the air tonight, to discuss newborn screening.  We are interviewing a woman who is suing the state of Minnesota for taking her child’s DNA without parental consent.  We were told you might provide some expertise on the issue.”

A quick succession of questions went through my head.  What was something as routine as newborn screening doing on the Glenn Beck Show?  What expertise were they looking for from me?  I reviewed what I knew on the subject.  Our system — a hodgepodge of opt-in and opt-out, implied consent and presumed consent – state-by-state regulations put in place in a simpler era, when newborn screening meant looking for PKU and a handful of other conditions.  It was not a system designed to handle today’s complex screening panels, and certainly not the use of newborn screening samples for research on genetic disease, birth defects, environmental exposures, chromosome studies and the like.  The topic interested me.  Being on television interested me.  Could I say yes?  Absolutely not, I told myself sternly.  This was Glenn Beck.  Who knew what crazy angle they would take?  There might be shouting.  What if he cried?  What on earth would I do if he cried?

 “Yes,” I said.  “I would be happy to.”

I was in New York, she noted, so I could come in and sit with Glenn in the studio.  With Glenn.  We were on a first name basis now, me and Glen.  Oh dear, I thought – or perhaps it was some other four letter word starting with ”sh”.  I poked around on the internet, searching for a few salient facts.  Minnesota tested for 53 conditions, 24 more than the 29 “core conditions” the ACMG designated top candidates for newborn screening.  The state permitted the use of newborn screening blood spots for research, usually de-identifying the samples first.  If you had a child in Minnesota, his or her DNA might be used to check the incidence of CMV infection, or the feasibility of newborn screening for Wilson’s Disease.  There was a study of mercury exposure.

I barely had time to break into a cold sweat in my closet when the producer from the Glenn Beck Show called back.  “Change of plans,” she said.  “We’re going in a different direction.”  A different direction — I was no longer needed.  They liked some other expert better.  I felt that peculiar pang you feel when people you despise and disdain don’t love you.  It was like junior high school all over again.

 And then I watched the show, which is to say there’s a first time for everything.  They hadn’t booked another expert in place of me (my heart gave a small, involuntary leap).  They had booked instead a state senator from Texas who was so completely insane that he made Glenn look reasonable by comparison.  The government was using newborn screening as an excuse to take DNA from children, the senator said.  That’s right, Glenn agreed.  It was like Nazi Germany, the senator insisted.  It could be, Glenn agreed.  Soon there would be concentration camps for people whose DNA the government found inferior.  Glenn tilted his head, like he couldn’t quite get his brain around that.  Probably not, he said, after a significant pause.

 Now I understood why I had been dis-invited for this crazifest.  They didn’t reject my expertise – they rejected all expertise.  Expertise was problematic in that facts could not be relied upon to support the narrative.  This wasn’t a story about newborn screening; it was a story about  government power encroaching on individual liberties.  The woman from Minnesota, a petulant but mild-mannered soul who had some good points to make about the actual risks of amassing a DNA database without proper consent – a practice confined to newborn babies and convicted felons – but she was left in the dust, unable to take the necessary next step of contextualizing newborn screening in the socialization of the American healthcare system.

 Complex issues are always at risk of being misused by in the service of a simple story that feeds into existing fears and beliefs.  The more complex the issue, the easier it is to cherry-pick facts to provide ersatz credibility.  In recent attacks on newborn screening, the underlying narrative is fear of big government, as illustrated by a CNN story last week titled: “The Government Has Your Baby’s DNA.”  Against all odds, this is actually a decent, balanced article – but if that headline doesn’t make you crazy, try reading the comments, several of which suggest that newborn screening is an invention of the Obama administration or a 21st century incarnation of Big Brother.  Death panels for the Headstart crowd.

 I applaud the spirit of the many genetic counselors who immediately looked to respond to the CNN article (No one said boo about the Glen Beck Show; was I the only one watching?).  Still, I think it is important to look at two key points before formulating any response:

1. Keep in mind the narrative.  Most people cannot be expected to care that much about newborn screening except as it fits into a larger context.  The fact that you are anxious to educate them does not mean that they wish to be educated.  Therefore, if the narrative is about a government power grab (and it is), then it probably won’t help to tell people that HIPPA and GINA will keep their babies safe.  I’m guessing that they will not take comfort in knowing that Washington has created two new acronyms to safeguard their children’s DNA. 

Ignoring the narrative is one big reason why the well-intentioned and well-informed have spent years dumbfounded by the intransigence of parents who continue to believe that vaccines do not cause autism.  I know it is hard to accept, but it just doesn’t help to offer someone the gold standard of peer-reviewed science when their meta-narrative is about how the medical establishment has been corrupted by for-profit entities.

 You can’t tell people whose fundamental issue is that they don’t trust the government that they don’t have to worry because the government will take care of anything.  What other options do we have?  Let’s try to remember that this is not about government rights; it is about baby’s rights.  The message has to be that every baby has a RIGHT to newborn screening.  We can’t get sidetracked into defending the will of the government to defend privacy and autonomy.

2. The narrative doesn’t just obscure the facts from those who believe it; it obscures the facts from those who despise it.  Let’s not lose track of all the valid concerns that have been raised by parents who object to a lack of education and consent in the use of newborn screening samples.  As much as we would like to insure parents that a database of blood samples would never be misused, it’s a fool’s business making promises.  The only sure thing about predictions is that some of them will be wrong.  No one anticipated the development of an algorithim that could match DNA samples to individuals within pooled DNA in GWAS, which sent government agencies scrambling to rewrite the rules for use of supposedly anonymous DNA registries.  No one anticipated that a teenage British boy conceived by sperm donation would be able to use ancestry testing designed for genealogy buffs combined with a few rudimentary facts like date of birth to find his donor dad.

 All other innovations in genetic services require vigilance and thoughtfulness.  But it is worth the effort, because every baby has a right to newborn screening.  We can’t sacrifice the possible to the paranoid, because that would be shortchanging America’s children.  That’s what I would have told Glenn Beck.  I might even have cried.

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