Eugenics and the genetic testing of embryos and fetuses

In a recent article in the Australian media Julian Savulescu, a noted Oxford ethicist who is a visiting professor at Monash University in Melbourne, makes the contention that selecting which babies are born by doing genetic testing on embryos or fetuses and only allowing those that are desired to live to birth in the way that it is allowed in Australia shares the moral problems of past eugenics programs that we have rejected. His point is that the current practice in Australia allows selection of embryos by preimplantation genetic diagnosis and fetal testing with selective abortion only for diseases and not for sex selection or other non-disease characteristics. By allowing selection based only on diseases the society is saying that “lives with disability are less deserving of respect, or have lower moral status.” That is why we rejected the eugenics programs of the past.

Savulescu points out that “If either the embryo or the fetus has a moral status – then it would be wrong to kill either, whether or not a disability is present. If the embryo or fetus does not have a moral status, it should be permissible to destroy an embryo or abort a fetus for any reason. In this way, paradoxically, allowing testing for diseases, but not for other genes, is eugenic in objectionable ways.”

It would be easy to go from there to saying that genetic testing of embryos and fetuses for the purpose of selecting who will be allowed to be born should not be done based on the principle of the value of all human lives underlies our rejection of eugenics, but he does not go that direction. Instead he moves toward the permissibility of all embryonic and fetal testing by saying that lifting the restrictions on personal liberty imposed by limiting genetic testing of embryos and fetuses to testing for disease would resolve the moral objection that the current policy involves morally impermissible eugenics. He gets there by saying that since most people already accept the testing of embryos and fetuses for diseases, we should not say that all such selective testing is wrong based on the moral status of embryos and fetuses and the way to validate people’s acceptance of testing for diseases is to allow testing for non-disease characteristics.

Savulescu’s means of getting to his conclusion is an interesting and commonly used one to justify things that have previously been understood to be wrong. Rather than giving arguments for why we should believe that a human embryo or fetus does or does not have full moral status, he says we have already accepted a limited practice that would otherwise have been considered immoral, so we should accept a broader version of the same sort of practice. This is the process by which immoral behavior takes over a society, and also the process by which an individual falls into immorality. First justify a very limited violation of morality, and then once that is accepted use that to justify further immorality.
That is why we need to stand firm on basic moral values such as the dignity and value of every human life. Defending the moral status of the weakest and most defenseless human beings is essential to avoid the acceptance of things like aborting fetuses because they are female that currently seem obviously wrong, but may become accepted by a gradual breakdown of moral values.

Eugenics in Our Day

Researchers have now developed a technique for doing genetic testing of a fetus by using cells circulating in maternal blood, avoiding the more invasive and dangerous technique of amniocentesis.   These new technical capabilities hail the dawn of a new age of eugenics, or the pursuit of “good (eu) genes.”  With these new technical achievements, physicians can gain knowledge of the child’s genetic makeup as early as 7 weeks after conception.  This can mean a new opportunity for interventions earlier in the pregnancy for the sake of the health of the child or it may provide doctors with more information to inform a decision to abort the child.

Arthur Caplan helped develop guidelines for organ transplants in the 1980s and has for some time pressed for similar oversight of the “wild west” of reproductive medicine, largely because of its eugenics implications.  He is very aware that genetic testing could be used for selecting athletic ability, eye color, or gender.  Sex selection using abortion is already something practiced in countries like India and China, and genetic testing using maternal blood would only make it easier.  However, Caplan is firmly pro-choice, saying that there are good and bad reasons for an abortion.  As Caplan puts it,“Sexism is not a good reason for ending a pregnancy.”

What is missing in this discussion is our response to those with diseases and abnormalities.  To many, a chromosomal defect like Down Syndrome or a physical abnormality like malformed limbs is a good reason for ending a pregnancy.   Too often our attitude to those with abnormalities and diseases is to consider them as unfortunate mistakes rather than opportunities to live in fellowship with another human being.  We think getting rid of the mistake solves the problem, especially when it involves fetal tissue out of our line of sight.  If our drive for perfection bumps into human autonomy, we back off.  If it does not, we proceed in getting rid of the patient if we can’t get rid of the disease.  This is a serious misunderstanding of the ethos of medicine.  An improvement in our ethical strategies will not come from a new set of protocols to use in the clinic.  It will only come about if physicians adopt a new value system concerning the purpose of medicine and develop their character accordingly.

Henri Nouwen, well-known for living in the L’Arche community for adults with disabilities, articulated  a vision of such an ethic when he said, “When we honestly ask ourselves which person in our lives means the most to us, we often find that it is those who, instead of giving advice, solutions, or cures, have chosen rather to share our pain and touch our wounds with a warm and tender hand.”

Click here for a video of Art Caplan discussing gender selection.

The myth of non-directive genetic counseling

An article and its accompanying editorial in this month’s American Journal of Obstetrics & Gynecology report on a study comparing the practices and attitudes of two types of specialists regarding prenatally diagnosed fetal abnormalities: maternal-fetal medicine (MFM) specialists, who are obstetricians; and fetal care pediatric (FCP) specialists, who are (as the name suggests) pediatricians. The article is titled, “Prenatally diagnosed fetal conditions in the age of fetal care: does who counsels matter?”

The answer to the question posed in the title is decidedly yes. For instance, compared to the pediatricians, the MFM obstetricians reported  more than twice the pregnancy termination rate among patients carrying a fetus with Downs Syndrome. They were more likely than the pediatricians to “somewhat or strongly support” a decision to abort a fetus with Downs Syndrome. The discussion section of the article notes that pediatric and obstetrician specialists may “hold contrasting perceptions of life with disabilities . . . We cannot explain why, after multivariate analysis, our reported termination rates differed between specialties for Downs Syndrome.”

Two observations: First, those who deny that prenatal genetic testing is eugenic claim that the counseling given around such testing is non-directive, that is, that it does not influence a woman whose fetus tests positive for some condition to have an abortion. They say that the counseling gives just the facts: “Your fetus has Downs Syndrome,” not,”You should abort this fetus because it has Downs Syndrome.” If the results of this study are true, it exposes that claim for the wishful thinking — or insidious deception —  that it is. As the study authors write, ” …our study supports concerns that prenatal decisions and outcomes may sometimes reflect provider attitudes.”

Second, isn’t it interesting that between obstetricians (who typically do not care for Downs Syndrome patients) and pediatricians, it is the specialists who actually care for patients who have Downs Syndrome, who actually know something about how the syndrome affects people and families, and who are far more familiar with the details of living with the syndrome, who are the ones less likely to recommend that a woman abort a fetus who is suspected of having it?

The Virtue of Human Development

New York University bioethicist S. Matthew Liao has recently proposed giving people drugs to predispose them to make decisions in favor of programs working toward climate change:

Yes. It’s certainly ethically problematic to insert beliefs into people, and so we want to be clear that’s not something we’re proposing. What we have in mind has more to do with weakness of will. For example, I might know that I ought to send a check to Oxfam, but because of a weakness of will I might never write that check. But if we increase my empathetic capacities with drugs, then maybe I might overcome my weakness of will and write that check. (1)

What Liao is talking about is something still closely tied to beliefs: the will.  Jonathan Edwards spent a good bit of his time writing about the close relationship between these two aspects of human character.  If all that was needed was a little perk-me-up to help out a sleepy donor, then we would prescribe a cup of coffee.  However, beliefs and the will are both components of human character and therefore are changed and molded by the process of maturation.  And the maturing of a person takes place in relationship with other persons, in relationship to God and in relationship to other human beings.  This is the heart and soul (literally) of the human experience.  Theologians oftentimes use the term sanctification to describe this change within the person as a result of the action of God.  This process is ultimately directed toward Jesus, the Mediator who opens the door for making the human heart living and the One who is the New Adam—the One who is human in the truest sense.  Pharmacological manipulation of human behavior seeks to short-circuit the process of human development, thereby essentially taking away that which is truly human.  Just think: if the literature describing the story of human struggle and development were eliminated, our libraries would be largely empty.  A person no longer growing in relationship with God and with others would be less human.  The manipulative means would have done great harm in pursuit of the end behavior.

The renewed interest in virtue ethics in recent years may serve to steer us away from further attempts at manipulation in favor of choosing a path of maturity.

I have always marveled at how Meda Pharmeceuticals markets their version of the muscle relaxant carisoprodol as Soma because of the name’s negative connotations.   Maybe it has no negative connotations at all.

By this time the soma had begun to work. Eyes shone, cheeks were flushed, the inner light of universal benevolence broke out on every face in happy, friendly smiles. (2)

1.  Anderson, Ross.  “How Engineering the Human Body Could Combat Climate Change.” The Atlantic,  March 12, 2012.

2.  Huxley, Aldous. Brave New World.  HarperCollins, 1932 (2006).

Gattaca Revisted

I teach ethics, bioethics and other philosophy-related courses at a Christian college. So I was not shocked, but nonetheless mildly surprised, when a student recently handed in a paper supporting human genetic enhancement. Actually, the paper was a critical response to an article by Michael J. Sandel, “The Case Against Perfection: What’s Wrong With Designer Children, Bionic Athletes, And Genetic Engineering?” Sandel maintains that genetically enhanced children would “never be fully free” because the improvements are imposed upon them without their consent. Moreover, genetically altered children will excel above normal children; this creates an unfair gap between the enhanced and the unenhanced.

To the argument that genetically enhanced children aren’t truly free, the student responded that no one is completely free, regardless of whether he has been enhanced or not. All humans are unavoidably saddled with the genes they have been given at birth. So why not improve the odds, so to speak, and do what can be done to overcome human limitations? In the student’s words, “It is not a sin to excel, and one should strive in lifting themselves above the norm; there is nothing admirable to be in the norm. We are not created to live in the mediocrity of the norm, but rather to reach above it, and to work on becoming the best possible person one can be.” And, “There is no blessing in being at the mercy of nature; blessing is being in control… Responsibility is what I strive for, not what I avoid at any price, because my goal in life is to become the best person that I can be…”

As I reflect on the argument for enhancement, several thoughts come to mind. First, I agree with the sentiment that we should not live in mediocrity but strive for excellence. I too want to become the best person I can be. But is genetic enhancement a better path to excellence?

Two situations come to mind. Currently, I am halfway through an 8-week program to lose some weight and improve my BMI (body mass index). I’m less than 10 lbs. “overweight,” but I am determined to get down to a healthier BMI. But suppose I could have been genetically engineered so that I would never become overweight no matter what I ate? Think of the benefits – fewer health-related problems due to excess fat in the body (not to mention my unrestrained enjoyment of food). Would this really be to my advantage? Indeed, perhaps I would be physically fit, but there is something to be said about the continuous discipline (those seemingly endless reps, crunches, pushups, etc.) it takes to maintain a healthy BMI. I feel better about myself as a person if I have worked diligently to stay in shape. Without the effort, I would not appreciate what it takes to achieve my goals.

The same could be said about academic achievements. Suppose it was possible to genetically enhance human intelligence? Again, I’m not convinced that this is a better option. I look back on the many hours of intense research it took to earn academic credentials. I come away from that experience with a deep sense of satisfaction, accomplishment and the virtue of perseverance. Moreover, I can echo David’s words – I praise you because I am fearfully and wonderfully made; your works are wonderful…” (Ps. 139:14).

Knowing too little about too much

 

With the ability to map the human genome, we find ourselves in the bewildering position of knowing too much and knowing too little at the same time.

Consider this scenario: The year is 2015. You, being the modern that you are, want to know your future, so that you can have some degree of control over it. You’re pretty sure astrology isn’t very helpful; but you’ve been keeping up with Time and Newsweek, and you’re thinking from what you’ve read there that genetic testing offers the scientific equivalent of what astrology promises. So you go down to the local Genetics-R-Us and for a mere $99 have your entire genome analyzed in 15 minutes. You then sit down with one of their genetic consultants, who reveals that you have a 64% likelihood of developing diabetes and a 43% chance of developing colon cancer. You go on a vegan diet, exercise three hours a day, and start a regular regimen of bowel cleansing and weekly colonoscopies. You have your genome analysis results sent to your primary care provider (PCP) to be part of your medical record.

Fast forward to 2025, when you are diagnosed with a rare cancer of the nose. After a little research, you discover that this particular type of cancer can be predicted by genetic testing. Genetics-R-Us went out of business, so you go to your PCP and demand to know why she didn’t warn you about the possibility of this cancer. She steps out to do a little research and comes back into the room:

“It turns out that the gene that predisposes you to this kind of cancer wasn’t discovered until 2019, and you had this test done in 2015.”

“But when that information became available, why didn’t you go back and recheck my genome?” you reply.

“That’s the responsibility of the company that tested you,” she says, as she gets her defense lawyer on the phone.

“But Genetics-R-Us went bankrupt! You’re the only one who has the data!”

“We have thousands of these genome maps in our records, each consisting of six billion base-pairs. They are encoded in various formats, none of which are compatible with each other, and some of which are so outdated we can’t access them anymore. Plus, a 200-page update of the latest new gene dicoveries is published every month. We simply don’t have the resources to go back through everybody’s individual genome and check for all of these genetic abnormalities that are constantly being discovered.”

***

With the capability to map an individual’s genome, we can gather lots of data, but we do not yet have the knowledge of how to apply that data (much less the wisdom with which to use it!). We know too little about all that we know. As genome testing becomes more affordable and widely available, some of the ethical questions that arise are, Is there an ethical obligation to go back an re-analyze data in light of new findings? If so, whose is the responsibility?

Privacy and the risks of IVF

A recent article in Toronto’s National Post tells of the experience of Dr. Rosanna Weksberg, a University of Toronto geneticist, when she presented a talk on the need to study risks associated with IVF (in vitro fertilization) to the Canadian Fertility and Andrology Society. Her talk related her experience in seeing an increased number of children with rare genetic disorders among children conceived by IVF. Some of those disorders are seen as much as 10 times more often in children born by IVF.

She expressed her concern that follow-up studies of children born by IVF are needed. The reception from the meeting of fertility specialists was polite, but no interest in her proposal for study was expressed. She said she has been trying to find fertility clinics willing to partner in studies of children born with the help of reproductive technology, but has not found any willing to work with her. A spokesman for the fertility society said they were interested, but that clinics could not afford to fund research.

In the United States assisted reproduction is a 3 billion dollar a year industry, but like in Canada there is no accurate information on the risk of genetic disorders, birth defects, or other increased health risks of the children produced by these procedures. Our culture has set apart everything having to do with sexuality and reproduction in a domain protected by privacy. That protection is so complete that it causes assisted reproductive technology to be entirely unregulated and makes any attempt to study the outcomes of the children produced exceedingly difficult. We need to recognize that, even though privacy in reproductive decisions is important, people cannot make responsible decisions without good information. Those contemplating the use of assisted reproductive technology need to know what the risks are for the children they bring into the world. They owe it to their children.

Another Promising Result Using Induced Pluripotent Stem Cells

Last Friday it was announced in Medical News Today that researchers at Johns Hopkins have discovered a means to fix the genetic defect that causes sickle cell disease with the patient’s own stem cells.  According to the announcement, “The corrected stem cells were coaxed into immature red blood cells in a test tube that then turned on a normal version of the gene.”[1]  This does not mean that a clinical application is imminent or that the procedure is safe.  As stated in the original abstract from Blood, the Journal of the American Society of Hematology, “the safety and feasibility of stem cell mobilization in individuals with sickle cell trait (SCT) has not been documented.”  However, the report added that “no untoward adverse events occurred in either group, including sickle cell crises.” [2]

The new treatment could prove to be revolutionary; at present the only existing therapy for sickle cell disease is through bone marrow transplantation.  However, the journal Blood reports that, “many patients are ineligible [for bone marrow transplantation] because of either the lack of a suitable donor or their underlying condition.”  The advantage of “peripheral blood stem cells” (PBSC) from the patient are obvious: patients don’t have to wait for a suitable donor – they are their own source of the stem cells.  The study concludes that, “Products from SCT donors require only minor changes in ex vivo cell processing, allowing for the use of mobilized peripheral blood as a potential source of stem cells for transplantation in sickle cell disease.”  Furthermore, as one researcher stated, “The beauty of iPS cells is that we can grow a lot of them and then coax them into becoming cells of any kind, including red blood cells.”[3]  In short, scientists believe they are now one step closer to successful stem cell therapy for sickle cell disease.

Of course, the word is still out on the success of PBSCs.  But ethicists should applaud any research that is as promising as embryonic stem cell research, but does not require the destruction of human embryos.


[1] http://www.medicalnewstoday.com/releases/235221.php

[2] There were two separate control groups with eight individuals in each group – one SCT group and one non-SCT group.  In the words of the research team, the study does “not permit the conclusion that G-CSF is completely without such risk. Our study, however, suggests that the risk is limited…” http://bloodjournal.hematologylibrary.org/content/99/3/850.full?sid=62767506-48e6-45f1-be88-b033f616fcc7

[3] http://www.medicalnewstoday.com/releases/235221.php

Do-it-yourself DNA Analysis for $19.95!

Well, not quite, although a very cheap version may be just around the corner.  In this month’s edition of Wired (September 2011), one article reports that it is now possible to build your own DNA research lab for just “a few hundred bucks.”  The technology promises consumers the ability to turn “small samples of DNA into quantities large enough to analyze.”  The advantages to such technology are obvious; imagine having the capability of examining and identifying DNA in your own garage or basement.  Indeed, DIYbio (http://diybio.org/) is “dedicated to creating pop-up labs and doing biology outside the traditional environments of universities and industry.”  Currently there are DIYbioer groups all over the world, especially in the U.S.

In the past, the chief obstacle was affordability; the technology was simply far too expensive for the average amateur on a shoe-string budget.  The situation is changing, however.  Wired reports that “Behind the scenes, engineers and science enthusiasts are teaming up to mod tools and technologies and sell their inventions – or simply share tips on how to build them – to anyone interested.”  For example, PCR (polymerase chain reactions) kits, described as a “copy machine for DNA,” are attracting lots of attention.  According to DIYbio, for under $600, you can purchase a PCR to diagnose diseases or explore your own genome.

As with any technology, DIY DNA analysis is a mixed bag.  Professional PCR machines range from $6,000 to $17,000.  With a small investment, individuals interested in the technology can bypass the big corporations and achieve some of the same results.  Three years ago, high school students used DNA testing in the classroom and discovered that “sushi restaurants and supermarkets were mislabeling their fish” (an event known as “Sushigate,” Wired).

Then again, there is always the dark side to technology.  Suppose it becomes viable to detect one’s own genetic defects with the technology?  Or, what if it’s possible to discover someone else’s genetic defects?  Needless to say, the technology raises a couple of ethical questions:

*what should a person do with knowledge of a future genetic disease, especially if there is a gap between diagnosis and treatment, or if there is no treatment in the foreseeable future?

*then there is the question of whether a person has a moral obligation to inform others of genetic defects, such as one’s potential spouse.

Perhaps the most worrisome aspect to pop-up labs is the lack of regulation or ethical guidelines.  Also, what else can be done with the technology, and who is going to oversee the research and monitor the results?

As humans, we have this unfortunate tendency to be self-centered, to ignore our finiteness, to press forward without caution, to abuse technology to gain greater power, and to proceed without moral guidelines.  We do well to heed the frequently quoted warning of Hans Jonas, “Modern technology has introduced actions of such novel scale, objects, and consequences that the framework of former ethics can no longer contain them.”  Where then is the ethical framework to restrict the misuse of this technology?

Of Machines and Men (Part II)

 

I observed last week that machines are increasingly shaping the nature of medicine; rather than medicine using its machines, its machines are starting to “use” medicine, to shape and direct the nature of medicine and adapt medical practice to the nature and methods of the machine. In this process, human activity absorbs the ethos and rhythms of the machine. Machines are all about efficiency, standardization, precision, data, and automation. Is this not becoming characteristic of the practice of medicine?

In medicine, “Efficiency” appears to be the watchword and underlying criterion for more and more decisions. The term “industry,” which previously one never would have used in the same sentence as the word “medical,” has become an accurate representation. Interactions between “medical consumers” and “providers” are increasingly mediated through machines. Leaders in medicine strive for standardization, automation, the effacement of individual practice variations, and centralization. Specialization is ever-increasing, and specialists with more techniques and machines to offer are valued more highly (and reimbursed more handsomely) than generalists who are the masters of less technology. Health care workers have reached the point where they can not practice without their gadgets. Practice quality is measured only by what is quantifiable; data, information, seems to have become the primary distinguishing characteristic of medicine, over and above relationship. Medical ethics is being reduced to machine-like process; content has become almost irrelevant. Technology is used more and more in an attempt to eradicate all ambiguity, imprecision, and uncertainty. Technology is used more and more simply because the technology exists. Both physicians and patients feel the increasingly machine-like nature of medical practice, even if they can not express it as such: patients complain of the impersonalization, sterilization, and dehumanization of medicine, while doctors feel more and more like cogs in a machine.

Efficiency is the end-all and be-all of machine medicine;  eliminating inefficient means becomes part of the grand project. And who in our time quibbles with eliminating inefficiency? The problem is compounded when the efficiency value system is applied not just to medicine, but to the humans it was meant to serve, when those patients who are considered “less efficient” are eliminated as blithely as last year’s smartphone. It happens now in the unborn, with prenatal genetic diagnosis identifying those “less efficient” humans who are then prevented from being born; it happens in the older and disabled, with euthanasia and physician-assisted suicide removing those who are too sick or old to be of use to themselves or others. Where will it be applied next?

To remain a human profession, medicine must regain and retain its human ethos . . . which, is why ethics is so central to its practice. In a future post I will consider some ways to resist the usurping of the essence of medicine by the efficient principle of the machine.