Genetic Testing

This is the age of the non-invasive prenatal tests, called NIPTs for short. NIPTs look at minute quantities of fetal DNA floating in a pregnant mother’s blood. With these small pieces of DNA scientists can look for genetic abnormalities in the fetus. The tests are “non-invasive” because they only require a blood sample from mom.

Sequenom, an California company that offers NIPTs, has just announced that they now offer a NIPT that looks at the entire fetal genome, all 46 chromosomes, searching for genetic anomalies, even ones that are so extremely rare. Sequenom calls it MaterniT GENOME.

It was only a matter of time before prenatal genetic testing got to this level of scrutiny. And the earlier the test results – Sequenom’s new test can be performed as early as 10 weeks – the easier it is for parents to terminate any “abnormal” fetuses.

That is the goal, of course, for such a comprehensive genetic screen. It isn’t to provide any needed health care to the growing baby, which should be the focus of any prenatal testing. The end game is to provide information so that parents can choose to get rid of any “imperfections” as quickly as possible.

The UK’s Daily Mail, asks in a recent headline about Sequenom’s MaterniT GENOME, “Would YOU have the baby screening test that could wipe out EVERY genetic defect?”

Let us get something very clear. This screen in no way shape or form “wipes out genetic defects.” In conjunction with abortion, it “wipes out” people with “genetic defects.”

Continue reading at LifeNews>>

Stacie Chapman’s heart skipped when she answered the phone at home and her doctor — rather than a nurse — was on the line. More worrisome was the doctor’s gentle tone as she asked, “Where are you?”

On that spring day in 2013, Dr. Jayme Sloan had bad news for Chapman, who was nearly three months pregnant. Her unborn child had tested positive for Edwards syndrome, a genetic condition associated with severe birth defects. If her baby — a boy, the screening test had shown — was born alive, he probably would not live long.

Sloan explained that the test — MaterniT21 PLUS — has a 99 percent detection rate. Though Sloan offered additional testing to confirm the result, a distraught Chapman said she wanted to terminate the pregnancy immediately....

Chapman spent the afternoon Googling the horrors of Edwards syndrome, with its heart defects, development delays, and extraordinarily high mortality. She was steeling herself for the termination when Sloan called back, urging her to wait, according to Chapman’s medical record.

Chapman had a diagnostic test and learned her son did not have Edwards syndrome. A healthy Lincoln Samuel just turned 1 and has a wide smile that reminds Chapman of her recently deceased father.

Two recent industry-funded studies show that test results indicating a fetus is at high risk for a chromosomal condition can be a false alarm half of the time. And the rate of false alarms goes up the more rare the condition, such as Trisomy 13, which almost always causes death.

And at Stanford University, there have been at least three cases of women aborting healthy fetuses that had received a high-risk screen result.

“The worry is women are terminating without really knowing if [the initial test result] is true or not,” said Athena Cherry, professor of pathology at the Stanford University School of Medicine, whose lab examined the cells of the healthy aborted fetuses.

In one of the three Stanford cases, the woman actually obtained a confirmatory test and was told the fetus was fine, but aborted anyway because of her faith in the screening company’s accuracy claims. “She felt it couldn’t be wrong,” Cherry said.

A GENETIC “signature” of autism in babies as young as 12 months has been identified for the first time, an international conference is to be told.

A simple blood test is now being developed and may be available in one to two years, Professor Eric Courchesne will tell the Asia Pacific Autism conference in Adelaide today.

“This discovery really changes the landscape of our understanding of causes and effective treatments,” says the director of the Autism Centre of Excellence at the University of California in San Diego.

The police may take DNA samples from people arrested in connection with serious crimes, the Supreme Court ruled on Monday in a 5-to-4 decision.

The federal government and 28 states authorize the practice, and law enforcement officials say it is a valuable tool for investigating unsolved crimes. But the court said the testing was justified by a different reason: to identify the suspect in custody.

“When officers make an arrest supported by probable cause to hold for a serious offense and they bring the suspect to the station to be detained in custody,” Justice Anthony M. Kennedy wrote for the majority, “taking and analyzing a cheek swab of the arrestee’s DNA is, like fingerprinting and photographing, a legitimate police booking procedure that is reasonable under the Fourth Amendment.”

Justice Antonin Scalia summarized his dissent from the bench, a rare move signaling deep disagreement. He accused the majority of an unsuccessful sleight of hand, one that “taxes the credulity of the credulous.” The point of DNA testing as it is actually practiced, he said, is to solve cold cases, not to identify the suspect in custody.

But the Fourth Amendment forbids searches without reasonable suspicion to gather evidence about an unrelated crime, he said, a point the majority did not dispute. “Make no mistake about it: because of today’s decision, your DNA can be taken and entered into a national database if you are ever arrested, rightly or wrongly, and for whatever reason,” Justice Scalia said from the bench.

A Department of Justice study estimated that around 900,000 requests for biological screening, mostly DNA testing, were backlogged nationally at the end of 2009, the most recent year for which data is available. Meanwhile, large numbers of kits from routine arrests may be making the problem worse, argued Brandon Garrett, a professor at University of Virginia School of Law.

“As taking more DNA from arrestees has increased, the backlogs have increased at the expense of testing DNA from actual crime scenes,” he said.

Garrett also said that simply adding a DNA sample from everyone who is arrested might even make it harder for police to identify criminals, increasing the likelihood of false positives without adding any perpetrators to the system.

“A lot of innocent people will have their DNA in these databases,” he said. “That dilutes the databases and weakens their power.”

Garrett is right. Forensic DNA testing looks at short sequences that are repeated over and over. These repeated regions are called short tandem repeats or STRs.  The places where these STRs occur are called loci.  There are many variations in the lengths of STRs (I may have 5 repeats at a particular loci and you may have 8 ) and by looking at many different loci scientists create a kind of profile or human bar code that is unique to each individual.  This technique is also used to determine parentage because you inherit half of your unique barcode from your mother and half from your father.

STR Data

After scientists analyze the DNA found at a crime scene, they compare it to the suspect's DNA to see if their barcodes match.  The more loci where the STRs match, the more likely that the DNA comes from the same individual.  Typically, to make sure that the barcodes matched, labs in the United States look at 13 loci.  Labs in the United Kingdom look at 10 loci.  If all 10-13 loci had the same lengths of STRs, it was said that the DNA was from the same individual.  The lower the number of loci, the less confidence the DNA is a match.  In other words the longer the barcode, the better the identification tool.

The problem comes from the fact that most DNA from a crime scene is not perfect.  It can be degraded or mixed with DNA from other individuals.  Sometimes labs can only match 9 loci to the DNA found at a crime scene.

Scientists are starting to question this assumption that 10-13 loci are enough to rule out the possibility of a random match to DNA other than the suspect.  In other words, if 10-13 loci are not enough to make a definitive barcode, then a 10-13 loci DNA profile can actually match more than one individual.  According New Scientist, a recent look into the possibility of random matches produced some serious results:

The first clue that something might be amiss came in 2005, when limited data was released from the Arizona state database, a small part of CODIS. An analyst who compared every profile with every other profile in the database found that, of 65,493 profiles, 122 pairs of profiles matched at nine out of 13 loci and 20 pairs matched at 10 loci, while one pair matched at 11 loci and one more pair matched at 12 loci. "It surprised a lot of people," says signatory Bill Thompson of UCI. "It had been common for experts to testify that a nine-locus match is tantamount to a unique identification."

The results from roughly 34,000 criminal drug cases were put into question earlier this year, when forensic chemist Annie Dookhan at the shuttered Department of Public Health Lab in Massachusetts was discovered to have falsified records on samples she was assigned to process. Instead, she forged signatures and did not perform tests she recorded as complete, according to investigations.  Suspicions may have first arisen due to her impressive output—she claimed to have processed 9,000 samples in a year, whereas colleagues only averaged around 3,000. As a result of her actions, a number of defendants may have been wrongly imprisoned, while others who may have been rightly accused were freed.

So the long and twisted court battle over the patenting of genes is finally going to the Supreme Court. The American Civil Liberties Union (ACLU) has rightly sued Myriad Genetics and the US Patent Office over the granting of patents on naturally occurring human genes.

About one fourth of our genes are patented which means that the patent holders control everything associated with that gene including research, testing and treatment. I have written many times that this state of affairs is ludicrous because patents cannot be issued for products of nature. If our DNA is not a product of nature then I don't know what is.

The original decision on this case was right. The initial ruling was that DNA isolated from its natural environment cannot be patented.  Judge Sweet wrote:

DNA represents the physical embodiment of biological information, distinct in its essential characteristics from any other chemical found in nature. It is concluded that DNA’s existence in an ‘isolated’ form alters neither this fundamental quality as it exists in the body nor the information it encodes.

If isolated DNA is fundamentally different from it is in the body that it becomes a patentable invention, then why would Myraid bother to identify the sample at all? Why not just put "Myriad" on every tube and call it good?

I am positive Myriad does not do that because the isolated DNA in every tube tells us something about the patient it came from. DNA can only tell us something about the patient if it is NOT so different than it was in the body. Isolated DNA is still a sequence of nucleotides produced by a person and so it is their DNA, not Myriad's. So it is the patient's name, or some other way to identify them, that goes on the tube.

Common sense seems to be at a premium these days. Let us pray that the Supreme Court has some when deciding on this case.

Genetic testing for autism is one step closer to reality, researchers say, a development which may open the door for earlier diagnosis.

In a study published this week in the journal Molecular Psychiatry, Australian researchers report that they’ve developed a genetic test that can predict autism with more than 70 percent accuracy among people of central European descent. Further testing in other ethnic groups is ongoing.

The test is based on data from more than 3,300 Americans with autism and over 4,000 of their relatives. Researchers identified hundreds of genetic markers that are associated with an autism diagnosis or are known to protect people from developing the disorder. They then compared the number of risk markers versus protective markers present in an individual to assess their likelihood of having autism.

“This test could assist in the early detection of the condition in babies and children and help in the early management of those who become diagnosed,” said Stan Skafidas of the University of Melbourne who led the study. “It would be particularly relevant for families who have a history of autism or related conditions such as Asperger’s syndrome.”

Scientists said the promising findings may lead to earlier autism diagnosis and intervention, which could reduce the disorder’s long-term behavioral and cognitive effects.

Currently, autism diagnosis is based on clinical observation alone. The American Academy of Pediatrics recommends that all children be screened for the developmental disorder at 18 months, but a National Institute of Mental Health survey released earlier this year found that most kids are not diagnosed until after age 5.

We live in the age of Molecular Biology, where diagnostics (including those for Down Syndrome) are becoming much more accurate, sensitive, and inexpensive. It’s a blessed thing to behold.

That may come as a surprise statement to many, but the truth of the matter is that diagnostic testing for Down Syndrome has great potential for good, especially the newer blood tests that can detect Down Syndrome earlier.

First, letting parents know much earlier takes from the more eugenic Ob/Gyn’s the leverage that comes with the more traditional (and later) amniocentesis. Women often receive those tests results within days to a couple of weeks of the legal limit for having an abortion. It doesn’t give the woman time to emotionally digest the diagnosis, leaving her vulnerable to coercive pressure from genetic counselors, doctors and family.

Next, the earlier blood tests allow more time for women to sit with their decision, and to seek out and receive alternative advice without the deadline for abortion looming large on the horizon. Contrary to arguments that say the abortion rate will skyrocket with such testing, as early term abortions are easier to have, one need only consider that research from Harvard University shows that 93% of all Ds babies diagnosed are being aborted; so there’s little margin for any skyrocketing of abortions.

The glass is half-full here.

By itself, the technology is morally neutral. This technology can alert an Obstetrician to the need for more sonograms and the need for bringing onboard a perinatologist. Some Ds babies have anomalies that require immediate surgical intervention at birth. Early diagnostics can help to determine whether the birth should be vaginal or C-section, and whether or not a surgical team needs to be on standby....

Knowing the devastation that often comes with such diagnoses is key to helping parents through that difficult time, and the earlier the diagnosis, the more time we have to help them.

With so much potential good that can come from this technology (and so little room for matters to get worse), it is unwise, even counterproductive to fight against it. Science has actually given us a buffer zone.

We need to exploit it.

In a development scientists are calling a "tour de force," researchers have reconstructed the genome of a fetus using DNA samples from the parents....

Shendure and colleagues put together the fetal genome using a saliva sample from the father, and a sample of blood plasma from the mother. About 13 percent of the DNA found outside of cells in a pregnant woman's body belongs to her fetus.

They sequenced the regions of DNA they were aiming for with 98.2 percent accuracy, as confirmed after the baby's birth with a test on blood taken from the umbilical cord blood.

Shendure estimated that reconstructing the fetal genome cost roughly between $20,000 and $50,000.

But with the cost of genome sequencing expected to come down, and as the technique is further refined, Shendure said, the hope is that researchers can develop a clinical test that detects many diseases noninvasively.

I feel compelled to write about this I am seeing the pro-life side once again slide into the rhetoric of how awful this technique is.  It will naturally lead to more abortions and therefore is inherently evil.

If you are at all familiar with my writing on prenatal genetic testing you know what I am going to say.  I reject that assumption.  What these scientists did was a major achievement.  They have proven beyond a doubt the humanness of the life growing inside the womb.  An entire genome of an unborn human being without an invasive procedure.  Amazing.

But because we live in a society where abortion on demand is prevalent, this is terrible news.  The information provided with this technique will likely lead to more abortions for ever more trivial traits.  The concerns of all pro-lifers are valid: what will this discovery mean for the safety of life inside the womb?

But is it the genetic testing that is inherently evil or is it the abortion that is inherently evil?

I fear that by focusing on the testing, we are simply ignoring the elephant in the living room.  It is the abortion that kills not the testing. I feel it is easier to blame the testing which is a new, fresh target then attack the giant, seemingly immovable troll of the abortion industry.

And if we do reject the prenatal testing that clearly shows that a human being is being formed in the womb, we close that life off from potentially life-saving information.

Let's be honest.  Without abortion, we would be jumping for joy at this new achievement.

We need to not be distracted by the latest prenatal technologies (there will always be another) chasing them each down as the true evil, scattering ourselves and our attention in the process.  We need to continue to focus on the real killer: abortion.

Scientists are turning to genetic testing to see if they can prove the existence of the elusive hairy humanoid known across the world as bigfoot, yeti and sasquatch.

A joint project between Oxford University and Switzerland's Lausanne Museum of Zoology will examine organic remains that some say belong to the creature that has been spotted in remote areas for decades....

Ever since a 1951 expedition to Mount Everest returned with photographs of giant footprints in the snow, there has been speculation about giant Himalayan creatures, unknown to science.

There have been eyewitness reports of the "yeti" or "migoi" in the Himalayas, "bigfoot" or "sasquatch" in America, "almasty" in the Caucasus mountains and ‘orang pendek' in Sumatra.

Tests up to now have usually concluded that alleged yeti remains were actually human, he said. But that could have been the result of contamination. "There has been no systematic review of this material."

The project will focus on Lausanne's archive of remains assembled by Bernard Heuvelmans, who investigated reported yeti sightings from 1950 up to his death in 2001....

"In the last two years it has become clear that there was considerable inter-breeding between Homo Sapiens and Neanderthals ... about 2 to 4 percent of the DNA of each individual European is Neanderthal," he said.

One hypothesis is that yetis are surviving Neanderthals. The joint project will take DNA samples from areas where there have been alleged sightings to see whether the Neanderthal DNA traces are stronger in the local population.

As for the project's chances of success? "The answer is, of course, I don't know," said Sykes. "It's unlikely but on the other hand if we don't examine it we won't know."

The just-published study examines how often identical twins get the same diseases. Reviewing records of 53,666 identical twins in the United States, Sweden, Finland, Denmark, and Norway, researchers tabulated how well genes predict the chance of getting a disease. The answer is that they really can't. Predictions based on genes turned out to be very close to useless. As Gina Kolata summed up in The New York Times: "While sequencing the entire DNA of individuals is proving fantastically useful in understanding diseases and finding new treatments, it is not a method that will, for the most part, predict a person's medical future."

This article explores the possibility that there is a parental duty to use preimplantation genetic diagnosis (PGD) for the medical benefit of future children. Using one genetic disorder as a paradigmatic example, we find that such a duty can be supported in some situations on both ethical and legal grounds. Our analysis shows that an ethical case in favor of this position can be made when potential parents are aware that a possible future child is at substantial risk of inheriting a serious genetic condition. We further argue that a legal case for a duty to use PGD for medical benefit can be made in situations in which potential parents have chosen to conceive through in vitro fertilization and know that any children conceived are at substantial risk of having a serious genetic condition.

We could clone Einstein and we really don't know if he's going to turn out to be an Einstein.

Remember gene expression the next time someone mentions an "innate musical talent," or a "natural-born swimmer," or "the math gene." As a general rule, traits and diseases are developmental, not gene-determined.

On this subject, we rejoice that numerous researchers have refused to allow discoveries made about the genome to be patented. Since the human body is not an object that can be disposed of at will, the results of research should be made available to the whole scientific community and cannot be the property of a small group.

Because variation in gene sequences plays an important role in the development and progression of many diseases, through gene patents patent holders can essentially gain ownership of the understanding of some diseases and of certain areas of patient care itself.

The parents of a four-year-old Oregon girl with Down syndrome are suing Legacy Health in Portland because they say doctors misdiagnosed their daughter as not having the condition during a prenatal screening.

As a result of doctors’ reassurances, according to KATU, the parents decided to continue the pregnancy.  They are suing for $7 million, an amount they say will pay for the girl’s care for life.

Court documents were not immediately available, so it’s unclear what type of genetic testing the couple underwent.  Genetic counselors say there are different types of screening options, including amniocentesis, chorionic villus sampling, and an ultrasound combined with blood testing.

There is much confusion over prenatal testing in general so it is not surprising that the details of exactly what testing was perform have been omitted.  People often confuse a screening method called a triple or quad screen that simply looks at protein levels in a maternal blood sample and actual genetic testing of the fetus through amniocentesis or chorionic villus sampling (CVS).  While the quad screen is just that, a non-invasive screen that requires further testing, the genetic testing through amnio or CVS is much more accurate because it tests the DNA of the baby directly.

Continue reading at LifeNews

Increasing numbers of Israeli children with birth defects are suing medical professionals for failing to detect abnormalities and allowing them to be born, says the New Scientist. The magazine reports that such is the Israeli Government's concern over the rise in 'wrongful life' lawsuits it has launched an investigation into the validity of the claims.

High rates of consanguineous marriage in some traditional Jewish communities have resulted in an increased likelihood of birth defects in the resulting children. For example, ultra-orthodox Jewish communities are commonly associated with having high incidents of Tay-Sachs disease. If both parents are carriers of the faulty gene in this recessive disease, any resulting child would have a one in four chance of having the disease. The Israeli state offers ultrasound scans and genetic tests to couples at risk of passing on a genetic condition and private pre-natal screening is also widely available. Screening can detect potential defects and help determine whether an abortion should be considered due to health reasons.

The term 'wrongful life' refers to circumstances where the parents of a child allege had they known about a severe genetic problem with the fetus they would have elected to terminate the pregnancy. 'Wrongful life' claims are generally brought by the children – or the parents acting on behalf of the children. New Scientist says the Israeli medical profession has estimated there to have been 600 'wrongful life' lawsuits since the first case in 1987.

Concerns have also been raised over the effect of the increasing number and value of claims against the medical profession. 'Physicians are increasingly practising defensive medicine, and doing a lot of testing', said Rabbi Steinberg. 'But more testing means more false positives – and that means more abortions, because geneticists don't always know if results indicating the possibility of chromosomal abnormalities are meaningful'.

The psychological implications of the lawsuits on the children concerned have been highlighted by several medical ethicists. 'I find it very difficult to understand how parents can go on the witness stand and tell their children 'it would have better for you not to have been born. What are the psychological effects on the children?' said medical ethicist Professor Rabbi Avraham Steinberg of University Hadassah Medical School, Jerusalem.

I have always believed that most expecting women do not go into prenatal testing with the intent to abort their child if something is found to be wrong.  I have read countless stories of women who are pressured by health care professionals to use abortion to "solve" fetal medical problems. I know in my deepest soul that eugenic abortion is so prevalent not because women want to abort their not-so-perfect fetus but because they are told, in their time of crisis and at their most vulnerable by the health care professionals that they trust, that there is no other choice.

ThereseAnn, Site facilitator for the website Living with Trisomy 13, and mother to a Trisomy 13 daughter, wrote the following about the experiences of women who where told they were carrying a child with Trisomy 13:

Over the years I've received many emails from women who aborted, terminated or induced early their Trisomy 13 children. They were amazed and completely surprised that their child could have survived, or at least grown to a point where they could reach their mothers arms! These women were given NO HOPE that their child would make it to term. Many were even told that their child’s diagnosis was more severe than the norm and discouraged from researching the disorder for themselves. Without a full understanding of this complex disorder, they felt they had no option but to terminate with all the pressures around them. These women fall into a unique category, those who felt "pressured to interrupt their pregnancy for medical reasons."

Another mother, Katie, wrote this about her treatment by medical professionals after a prenatal diagnosis of Trisomy 13:

We had chosen to have a termination due to all the pressure from the doctors/genetic counselors/professionals. Also at that time it was all we knew to do. No one gave us any information and we had no access to viable information....

Maybe if the professionals we had talked to would have given us more information we would have made a different choice. To this day, I still live with the pain of the choices we made. Trisomy needs to have a bigger voice and all the professionals need to be more open minded and not so much on terminating, after all do they really know the after pains we go through?

Dr. Richard W. Sams II, a family physician in the United States Navy and the director of the Naval Hospital Jacksonville Family Medicine Residency Program, relayed the experience of one of his patients in an article for The New Atlantis journal:

One woman for whom I provided prenatal care had a child diagnosed with a severe heart anomaly by ultrasound at 20 weeks gestation. The anomaly is virtually always lethal. Both a perinatologist and a geneticist recommended to the couple that the woman have an abortion. Despite being deeply offended by the recommendation and informing the physicians that she would carry the child to term, the suggestion was repeated numerous times. Her experience is far from anomalous.

These experiences are as ubiquitous as they are horrifying.  And that is why the announcement of a new organization to help parents who have been given an devastating prenatal diagnosis is so heartening.  Started by Theresa Gray, grandmother of conjoined twins who died shortly after birth, 1heart2souls seeks to provide resources and options to expectant parents besides just killing their child.  From LifeSiteNews:

1heart2souls is an organization formed to support expectant parents who will experience infant loss or the birth of an infant with disabilities. Gray says that over 98% of babies with a poor prenatal prognosis are aborted.

1heart2souls seeks to get information to genetic counselors, ob/gyns, and clinics where parents will likely get the negative prognosis. This is important, says Gray, because these expectant parents are normally given abortion option literature.

“This is disturbing and has to be challenged,” she told LifeSiteNews.

Gray’s nonprofit is comprised primarily of women who have lost their infants or have a child with disabilities.  It is currently 100% volunteer.

The organization’s vision and hope is that in supporting and bringing awareness to the suffering and challenges of expectant parents it will lead to further research on causes and prevention of infant loss and birth disabilities. More importantly, they hope that through compassionate support parents will realize the joy in embracing their child or children.

“We believe that all children are created in the image of love, and are fits to the world with a given and profound purpose,” Gray said.

Another great resource that has been around for many years is Be Not Afraid.  At their website you can find all kinds of resources for just about any prenatal diagnosis.  And it is also a great place for genetic counselors as well who want to provide more than just abortion referrals.  Karen, a genetic counselor, wrote the following about Be Not Afraid:

"Genetic counselors are frequently the providers that break the initial news to parents about their baby.  It’s not easy for parents to hear this "news" -  it is a life-altering and critical time and they feel all the weight of the world upon their shoulders.  I always consider the time I spend with them a true privilege. Every story is different, but each one deeply moves me, especially when I am allowed to enter into their lives.  In them I see that that unconditional love only a mother and a father can have for their baby despite knowing their baby has serious birth defects, some of them life threatening. We cannot do this alone. Be Not Afraid Ministry has been an instrumental resource because they bring a higher level of care and support to these families. I feel truly indebted to them."

These two organizations remind us all that there is no hope in abortion, only death.  Parents do have other options and places to turn if they are being pressured to abort their child because of a prenatal diagnosis.

No longer just an embryo, but a boy or girl.

Photo: Westside Pregnancy Clinic

At the news, there was a collective groan from both sides of the abortion debate.  Prolifers and prochoicers alike realize that this test will make sex selective abortions much easier.  I am encouraged to see that both sides realize that this is bad. But as usual many people, whether they realize it or not, lay the blame for the sex selective abortion on the test and not on the abortion.

My readers know that I will not do that.  Is there something inherently wrong with using a non-invasive test to find out the sex of your baby at 7 weeks?  Of course not.  (Unless you are getting the test with the intent to abort.)  There is nothing wrong with being curious about the life you have growing inside you.  In fact this test allows what was once called an "embryo" to now be called a "boy" or "girl."  It further humanizes what has previously been dehumanized.  I believe the sooner we can relate to the life growing inside the womb the better.  I will be radical and say that because they inherently show us that the life inside the womb is indeed a human being with a distinct genetic make-up, such early prenatal tests may prevent more abortions than they "cause."

It is the abortion that kills, not the testing. Many would like to limit access to early prenatal testing.  I understand that as a practical way to protect life in the womb in world where there is abortion on demand and begrudgingly support that.  But I cannot shout it from the roof tops enough: the problem is the abortion not the testing. I feel blaming the test for sex selective abortion is somewhat like a white flag.  As if unconsciously we are acknowledging that abortion is a permanent fixture in our society so the only way to fight it is to label other things that may lead a woman to abort as the problem.

I will not do so. I may stand alone but I lay the blame for sex selective abortion on the abortion.  Abortion is the procedure that kills.  It is the abortion that taints every prenatal test from ultrasound to amniocenteses and now this early blood test. 

Imagine a world without abortion.  In such a world we would be rejoicing about technology that lets us peek inside and find out more about the boy or girl (no longer just an "embryo") in the womb without putting their life at risk.  I refuse to the raise the white flag and will say that the only way to ensure that sex selective or eugenic abortions do not take place is not to point a finger at prenatal testing, but to get rid of the evil that is abortion.

For decades the U.S. Patent Office has been issuing patents for naturally occurring genes.  This affects you directly whether you know it or not.  Because a company legal "owns" a gene sequence, they control who is able to test or research that gene.  In the case of genetic testing, labs are limited on what genes they can offer tests for because of gene patents, which limits the choices they can offer patients. Labs that are allowed to test a patented gene pay royalties to the companies that own the genes which drives up the cost of the genetic test.  Many labs, like ones I have worked in, just chose not to offer the test at all.

In the case of some genes like the breast cancer genes BRCA I and BRCA II, one company, Myriad, owns the gene and only Myriad offers the test for variations that signal a high risk of breast or ovarian cancer.  This means that if a patient wants a second test run by another company to confirm the test result and test interpretation before they have radical surgery, they are out of luck.  In addition, many women who fear that they are at risk simply cannot afford the $3000 test that could give them the information to save their life.  And because of gene patents, they cannot go anywhere else.

To put a human face on gene patents, I once got a call from a frantic father whose daughter was diagnosed with Long QT, a rare and serious genetic heart condition.  He and his wife were faced with putting their 4 year-old little girl on serious medication and fitting her with a pace maker because of the genetic testing results showed she had a rare genetic mutation for Long QT.  Something about the lab that gave them their results did not sit right with them.  Before initiating the invasive procedures on their daughter, they wanted a second opinion.  The could not get one without traveling overseas because only one lab in the United States owned the patent for the gene and only they offered the test. 

Last year the ACLU stepped up and did the right thing and sued Myriad Genetic and the U.S. Patent office over Myriad's patent on the BRCA I and II genes.  The initial ruling was that DNA isolated from its natural environment cannot be patented.  Judge Sweet wrote:

DNA represents the physical embodiment of biological information, distinct in its essential characteristics from any other chemical found in nature. It is concluded that DNA’s existence in an ‘isolated’ form alters neither this fundamental quality as it exists in the body nor the information it encodes.

The U.S. Department of Justice agreed:

"...the unique chain of chemical base pairs that induces a human cell to express a BRCA protein is not a ‘human-made invention.’ Nor is the fact that particular natural mutations in that unique chain increase a woman’s chance of contracting breast or ovarian cancer. Indeed, the relationship between a naturally occurring nucleotide sequence and the molecule it expresses in a human cell – that is, the relationship between genotype and phenotype – is simply a law of nature. The chemical structure of native human genes is a product of nature, and it is no less a product of nature when that structure is ‘isolated’ from its natural environment than are cotton fibers that have been separated from cotton seeds.”

Of course Myriad appealed the ruling.  Last week the appellate court ruled for Myriad and stated that genes CAN be patented because isolated DNA is fundamentally different than DNA in the body.  From the New York Times:

“The claims cover molecules that are markedly different — have a distinctive chemical identity and nature — from molecules that exist in nature,” Judge Alan D. Lourie wrote for the court. 

I find this ruling to be ridiculous and this is why.  I have personally isolated DNA from thousands of patients for genetic testing.  I find the ruling that all that DNA I isolated is so fundamentally different that it is eligible for a patent laughable.  Is the DNA I isolated still have all of the proteins that surround it naturally?  No.  It is in the same shape that it was when it was in a white blood cell?  No.  Is it still in a continuous piece?  No.  Is it still a naturally occurring molecule that has information about the organism from which it was isolated?  Absolutely!!!

When I isolated DNA, I did not create or reorder that DNA.  It still has information encoded by and about the person from which it came.  The proof is that after I isolate it, I put the patient's name on it, not mine.  If the DNA was so fundamentally altered by the isolation process that it was no longer the naturally occurring DNA from the patient, then why would I test it?  If isolating it changed it so much then it wouldn't tell me anything about the organism that it came from.

I recently put together a puzzle with my daughter.  The puzzle was made from a beautiful photo of a hot air balloon rally over a reflective body of water.  The person who took that photo owns that photo.  This ruling is like saying that if I removed one piece from that puzzle then I could patent just that piece.  The piece looks different without what naturally surrounds it but it still holds all the same information it did when it was in the puzzle.  Did I fundamentally change the information on the puzzle piece when I removed it?  Of course not!

This ruling allows what I believe to be an unethical practice continue: the systematic claim of ownership to naturally occurring DNA.  This ruling basically says that you own your DNA while it is in your body, but if someone extracts it and identifies the purpose of it, they can own it. This naturally reduces the human body to pieces that can be bought and sold.

It is not easy find official Church teaching on gene patents, but I did find this quote from John Paul II in an address to the Pontifical Academy of Sciences that addresses the issue:

On this subject, we rejoice that numerous researchers have refused to allow discoveries made about the genome to be patented. Since the human body is not an object that can be disposed of at will, the results of research should be made available to the whole scientific community and cannot be the property of a small group.

It has been estimated that 96% of fetuses with Down Syndrome in France are aborted.  Most of the cases are detected in older women whose physicians offer prenatal testing.  As in the United States, offering prenatal testing for Downs in France is not a government mandated practice for obstetricians.  The American Congress of Obstetricians and Gynecologists simply recommends that doctors offer it.  Lawmakers in France are considering making it mandatory for physicians to offer prenatal testing for Down Syndrome.

Why is this significant?  Because mandating that doctors offer prenatal testing completely changes the game.  It is not that the prenatal testing is inherently evil.  In most cases it is simply a way to get more information about the life growing inside the womb.  It is what is done with that information that is problematic.  Abortion on demand complicates the entire prenatal testing arena.  Without legalized abortion, the use of prenatal testing would be naturally limited to conditions that could benefit from some kind of prenatal intervention.  Abortion takes information that may or may not be clinically useful and makes it deadly. 

Many Catholic hospitals and pro-life doctors all over the world have limited access to non-clinically useful prenatal testing (like testing for the sex of the fetus) to try and protect life in the womb in a world where abortion on demand is a reality.  Mandating that all doctors offer prenatal testing takes away that discretionary ability.

And with a 96% abortion rate for fetuses with Down Syndrome, a mandate for offering prenatal testing, even to young woman who are at a lower risk of having a child with Downs, amounts to a de facto state sponsored eugenics program.  At this point there is no treatment for Down Syndrome in the womb.  If there was, a mandate to offer testing would be an entirely different story.  But since there is not, coupled with the outrageously high abortion rate of Down Syndrome fetuses, this proposal smacks of a government sanctioned seek-and-destroy mission against those with an extra chromosome 21.

The Jerome Lejeune Foundation is a leader is funding research that is aimed at understanding the function of chromosome 21 and normalizing intelligence in those with Down Syndrome.  They are leading the charge in preventing France from implementing this mandate.  From their website:

Because the legislators in both Houses of the French Parliament are currently debating the contents of the forthcoming bioethics law and are preparing to legalize systematic screening for Trisomy 21.

Because 96% of the babies diagnosed before birth as having Trisomy 21 are eliminated, some of them as late as the ninth month of pregnancy. Instead of expanding this search-and-destroy mission aimed at infants with Trisomy 21, we should instead take advantage of the future bioethics law to put a stop to the current trends!

Because obliging the doctor to propose prenatal diagnosis to all expectant mothers would lead us from a de facto situation of eugenics to a legal system of eugenics that completely contradicts the Civil Code (art. 16-4).

Because infants with Trisomy 21, like all of us, want to live, to love and to be loved.

Because the degree to which a society is civilized is measured by its ability to protect its weakest members.

Because all of us are vulnerable and called to show solidarity with those who are a little more so.

Because, with technological advances, it will very soon be possible to detect many other disorders or predispositions to diseases. The logic of search-and-destroy will be extended to an ever-increasing number of babies.

Because by choosing to eliminate the sick instead of trying to cure their illnesses, science and medicine abandon their purpose and deny themselves.

The purpose of this petition is to denounce the eugenicist ideology informing the bioethics law, which is clearly expressed by its intention to screen systematically for Trisomy 21, and to challenge our legislators concerning the blatant contradiction between the Civil Code and current eugenics practices.

If your share our concern and our willingness to fight for greater respect for the lives of the most vulnerable, then sign this petition, which we will forward to the members of Parliament and to the French government.

Life is the most important political issue for Man: the members of Parliament, like the future candidates for the Presidency of the French Republic, cannot ignore this. They must recognize the determination of the French electorate on this subject [and also realize that people of good will in other countries will be watching carefully how they deal with this latest threat to fundamental human rights].

They ask that you sign the above petition to protect the lives of those with Down Syndrome here. The page is in French.  Just click on the big red "Signer" button on the top right and then enter your information.

The ACLU has taken on gene patents and it is suing Myriad and the US Trademark and Patent Office for issuing patents on naturally occurring gene sequences.  The judge in the case has agreed that Myriad's patents on the BRCA I and BRCA II gene variants are invalid. Myriad has appealed the decision.

A couple of weeks ago, in an unexpected move, The US Department of Justice filed an amicus brief that essentially states that naturally occurring genes cannot be patented and that it does not support the practice.  One argument for gene patents has been that isolating DNA out of its natural environment is a sufficient enough innovation to grant a patent on the sequence.  The Department of Justice disagrees.  From the brief:

“the unique chain of chemical base pairs that induces a human cell to express a BRCA protein is not a ‘human-made invention.’ Nor is the fact that particular natural mutations in that unique chain increase a woman’s chance of contracting breast or ovarian cancer. Indeed, the relationship between a naturally occurring nucleotide sequence and the molecule it expresses in a human cell – that is, the relationship between genotype and phenotype – is simply a law of nature. The chemical structure of native human genes is a product of nature, and it is no less a product of nature when that structure is ‘isolated’ from its natural environment than are cotton fibers that have been separated from cotton seeds.”

“We acknowledge that this conclusion is contrary to the longstanding practice of the Patent and Trademark Office, as well as the practice of the National Institutes of Health and other government agencies that have in the past sought and obtained patents for isolated genomic DNA,”

Here is where things get interesting.  The Patent Office has announced that they will continue to award gene patents even though the Department of Justice has come out against it.  Once again, on the Federal level the left hand is doing exactly what the right hand says not to.

I believe that patenting naturally occurring gene sequences is unethical. It is hard to find official Church teaching on gene patents, but I did find this quote from John Paul II in an address to the Pontifical Academy of Sciences:

The ability to establish the genetic map should not lead to reducing the subject to his genetic inheritance and to the alterations that can be made to it. In his mystery, man goes beyond the sum of his biological characteristics. He is a fundamental unit, in which the biological cannot be separated from the spiritual, family and social dimensions without incurring the serious risk of suppressing the person's very nature and making him a mere object of analysis. By his nature and uniqueness, the human person is the norm for all scientific research. "He is and he ought to be the beginning, the subject and the object..." of all research (Second Vatican Council, Gaudium et spes, n. 25).

On this subject, we rejoice that numerous researchers have refused to allow discoveries made about the genome to be patented. Since the human body is not an object that can be disposed of at will, the results of research should be made available to the whole scientific community and cannot be the property of a small group.

I believe that I am interpreting John Paull II correctly by saying that is unethical to patent a naturally occurring gene. Patents should be be awarded for inventions, like novel approaches to testing or manipulating the gene, but not for the gene itself.

The ability to establish the genetic map should not lead to reducing the subject to his genetic inheritance and to the alterations that can be made to it. In his mystery, man goes beyond the sum of his biological characteristics. He is a fundamental unit, in which the biological cannot be separated from the spiritual, family and social dimensions without incurring the serious risk of suppressing the person's very nature and making him a mere object of analysis. By his nature and uniqueness, the human person is the norm for all scientific research. "He is and he ought to be the beginning, the subject and the object..." of all research (Second Vatican Council, Gaudium et spes, n. 25).

On this subject, we rejoice that numerous researchers have refused to allow discoveries made about the genome to be patented. Since the human body is not an object that can be disposed of at will, the results of research should be made available to the whole scientific community and cannot be the property of a small group.

As I have written before, I have become deeply involved with the current healthcare reform debate arguing that the system desired by the President and Democratic Congressional leaders will lead to rationing of care and slower development of potential life-saving treatments for children like Gunner. Recently my research into this issue has led me down another path: pre-natal genetic testing.

Doing a simple Google search you can find dozens of articles and medical journal reports discussing the use of pre-natal genetic testing and debating the morality of the issue. Ethicists and physicians perform cost-benefit analysis’ of expensive yet exhaustive pre-natal testing compared to bringing a child into the world who will have a challenging life and cost thousands in medical care.

One theme is apparent; unlike with cancer where we are “racing to a cure,” these scientists offer hope that we can eliminate diseases by terminating those with them. An AP article yesterday, on February 17th, headlined, “Testing curbs some genetic diseases.” Couldn't the article title have been, “Testing snuffs out those with genetic diseases?"

I am not angry at the AP writer for the writing the story as I was excited for finally someone has admitted that genetic testing is killing little girls and boys like Gunner. [my emphasis]

I understand her anger and frustration.  Having tested pregnant mothers and their partners for cystic fibrosis mutations, I am fully aware of how this information is being used.  But I disagree that it is the "genetic testing [that] is killing little girls and boys like Gunner."  Genetic testing may be cited as the reason to kill a baby with a genetic disease, but the REAL killer is abortion on demand.  Without legalized abortion, prenatal testing would be what it should be, a way to find out more about the life going in the womb, especially if something is going wrong.  Without legalized abortion, the use of prenatal testing would be naturally limited to conditions that could benefit from some kind of prenatal intervention.

The problem is abortion and a medical establishment that uses it as a "solution" to medical problems.  Always has been.  Abortion takes clinically useful information and makes it deadly.

Why do I feel compelled to make this distinction when I know that the information that prenatal genetic testing provides is being used as the reason to murder babies with genetic disorders?  Because I know that someday doctors will likely able to treat genetic disease in utero.   Possibly even with gene therapy.  I envision a day where drugs that are currently being tested to reverse the cognitive symptoms of Down Syndrome are used in the womb to halt the effects of an extra chromosome 21.  That cannot happen without an accurate prenatal genetic test. 

We should not equate prenatal genetic testing with murder, especially in law.  If we do, we may lose valuable future opportunities to heal in the womb.

I do wholeheartedly agree with Ms. Hawkins assessment of the way eugenic abortion is portrayed.  Aborting a child with a genetic disease DOES NOT cure the disease.  It only gets rid of the people with it.  That wouldn't work with cancer, but somehow when it comes to life in the womb, death is described as a "cure."

**Note: I am FULLY aware that amniocentisis (the most common way prenatal genetic testing is now performed) can cause miscarriage but that is NOT the intent of the procedure.  While the very intent of abortion is to destroy the life in the womb.  In the very near future, I am positive there will be ways to conduct prenatal genetic testing that is less invasive or even non-invasive.**