The ruling which even Justice Scalia deemed the case too technical for him to personally understand all aspects, simply noting that if the DNA in question is naturally occurring than there seems to be no precedent for a laboratory to claim it as their own if they have done nothing to create it.  Justice Clarence Thomas stated more clearly in the court record that “we merely hold that genes and the information they encode are not patent eligible … because they have been isolated from the surrounding genetic material.”

The Case in Question

Photo: geneticsandsociety.org

The patenting of genes and human DNA was elevated to the national spotlight by Salt Lake City, Utah, based bio-tech firm Myriad Genetics, who in an effort to protect its $600 million dollar annual gene testing patent for breast cancer likelihood in women.  In 2009 the (ACLU) sued Myriad Genetics in an effort to stop what they considered patenting of material that violates the rights of human beings to own their own biological makeup.  A New York Federal Court sided with the ACLU in 2010 essentially allowing other firms to offer a similar test for less money.  Two subsequent appeals put the ball back into Myriad’s court however the ruling by the Supreme Court seems to have once again taken the side of the ACLU.

Since the ruling by the high court, several smaller bio-tech companies immediately started implementing the previously patented cancer gene test into their portfolio of DNA testing offered to clients.  Most charged half the cost of Myriad Gene’s original test or less prompting Myriad to sue them in order to halt the testing immediately.  Regardless of the court ruling, Myriad still claims ownership of synthetic genes which they claim the other bio-tech companies are using as part of the gene testing.

The BRAC gene

The BRAC1 and BRAC2 gene are two genetic mutations that are known to be responsible for breast cancer. These gene mutations can be present in both males and females and despite the fact breast cancer is associated with women, men too can develop breast cancer as they too have breast tissue.

The BRAC 1 and BRAC2 genes are tumor suppressor genes which control and slow down cell division. A mutation on a tumor suppressor gene can have life-threatening consequences as tumors can grow uncontrolled by the body. Testing for these genes can help determine how likely it is that the person in question will develop breast cancer over the course of their life. Analysis of these tumor suppressor genes can, however, only gives an estimate expressing the likelihood that someone will develop breast cancer and even a high probability does not signify the person will ever develop breast cancer. The news of Angelina Jolies preventive double mastectomy following results of a genetic predisposition test to breast cancer has spurred many women to get tested – especially in Canada and the USA. Besides the result of DNA testing, doctors will also evaluate the family health history to assess the incidence and frequency of breast cancer. This will help them get a better idea of how likely it is that the person concerned will suffer from breast cancer.

A number of companies offer for various diseases including breast cancer. The tests can be done using a blood sample or a saliva sample and results will determine the individuals’ genetic susceptibility to a range of different illnesses including breast cancer, prostate cancer and many others. The FDA, or the , has halted the sale of these direct to consumer genetic predisposition tests in the USA and have argued that the science behind them is not sound enough and that the results of such a test are not very meaningful to the individual who has undergone the test. Genetic predisposition testing is not illegal per se. It can be carried out following a physician’s recommendation.

Synthetic vs. Naturally Occurring DNA

Where the Supreme Court’s ruling has failed to bring any finality, in fact only inviting more confusion, is what determines synthetic or cDNA.  cDNA is termed “complimentary” DNA however what makes it altogether synthetic and thus still patentable under the US court’s ruling remains to be clarified.  Scientists contend that what is currently considered synthetic genetic material is itself naturally occurring but copied.  So if a gene cannot itself be patented, but a laboratory can make an exact copy themselves of the gene in question, and then label it synthetic- the new gene can then be patented.

For now this gray area of the law remains in doubt and is unlikely to be resolved in the near future by the Supreme Court.  The Myriad Genetics lawsuits are still pending and will themselves most likely shed more light on what the court systems determine to be natural and synthetic DNA.

Image: freedomsphoenix.com

There’s a reason we sexually reproduce as a species–we get a lot out for our reproductive contribution.  With each generation of sexual reproduction, we have the possibility for what we call biological crossover, in which the chromosomes of the parents (which they received from their own parents) are mixed or scrambled—and the way it is done is also the reason average siblings are only about 50% identical to each other (at about 50% of their locations on the chromosome, they are half identical to each other, at about 25% of their locations they are completely identical, and at about 25% of their locations, they are completely not-identical).  Also, we have to remember that at the end of all of that, children are only half identical to each parent–half of each parent’s DNA wasn’t used to make that child!  Different combinations will be used to make their siblings.

This biological crossover or diversity is very useful for a population as it makes them not as easy to wipe out with either infectious disease (not all of them have the same vulnerabilities) or from a single mutation (that if asexual would spread to all offspring).  Through the study of DNA it is possible to obtain information that allows us to identify dead individuals or even to prove genetic relationship, which is something similar to what is done in traditional fingerprinting.

There are various ways of analyzing DNA by making use of various components of the DNA sequence of an individual.  Many leading DNA testing companies and laboratories including , homeDNAdirect and others will have DNA testing facilities able to test using multiple techniques.  The three most common methods of analyzing of DNA evidence are:

DNA analysis with microsatellites

Genetic markers called microsatellites are analyzed to perform many DNA studies and analyses.  In the United States, we tend to use a set number of highly polymorphic areas of the DNA, areas which have a lot of variability from person to person in order to simplify identity—a bit like looking at the fingerprint pattern lines near the center of a person’s digit, where the lines form a whorl or a loop or an arch.  The result from the study of several microsatellites is called a genotype analysis, and this turns out to be unique for each individual.  The probability of finding two people randomly with identical genetic markers is almost non-existent.  As a result these studies are used in forensic science for identifying individuals.  An example would be the analysis of a genetic sample (blood, semen, vaginal fluids, or several hairs) left behind by a criminal at a crime scene.  If a suspect is in custody, this sample can be used (by conducting ) and matched to the DNA of the suspect kept in custody in order to determine if it was from the same person.

DNA analysis can also be used to establish the paternity of a child.  Paternity testing has not only served to clarify personal concerns that arise from our biology (men do not directly give birth to their own children, so paternity is questionable) but also has played a vital role in dispensing justice during cases involving acknowledgment of paternity, with consequent assignment of rights and obligations by the court to the biological father.  Generally, microsatellites are used to investigate close putative relationships exactly such as an ostensible father and child.

DNA evidence has also been used for the identification of decomposing bodies.  This is often in cases where their state of decomposition is beyond recognition based upon macroscopic (those traits we can see with the naked eye) physical characteristics.  A genetic sample from the remains of the deceased can be compared with samples of the alleged parents or children of the missing person.  Anything from teeth to bone samples can be used in such cases.

DNA analysis using Y-chromosome testing:

Unlike the pairs of 22 autosomal chromosomes (note that people with aneuploidy such as Down’s syndrome have an extra copy of a chromosome) we inherit from our parents, we also inherit two sex chromosomes, which for most humans will determine their biological sex.  If you inherit your father’s X-chromosome, you will be female.  If you inherit your father’s Y-chromosome, you will be male.  Your mother gives you an X-chromosome her body has spliced together from the two she got from her own parents.  DNA analysis is also conducted on the chromosome Y (the male specific chromosome).  The Y-chromosome does not pass through females every other generation like the X does, so it is inherited from the father and his father and his father and so on, such that the analysis of this unique chromosome allows us to study the generations of paternal relatives of an individual. Two males from the same paternal lineage will share the same Y chromosome profile – this test can help in identification of bodies in murder cases as deceased males can have their Y chromosome matched to an alleged relative to confirm their identity.

Multiple testing is used in cases of alleged infidelity, where scientists can confirm the presence of male DNA in a sample by testing for Y-chromosome specific DNA markers.

Mitochondrial DNA analysis:

) for all people (male or female) comes from their female-only line.  When men’s bodies make their sperm cells, the mitochondria they inherited from their mother is used to make the tail of the sperm cell—so when the ova of a man’s partner takes the sperm cell and fuses with it, the tail, which is left outside, does not generally contribute his mother’s mitochondrial DNA to his fetus.  Because of this, all babies, whether male or female inherit an mtDNA signature that is an exact copy of the MtDNA of their mother, grandmother, great grandmother etc.  Of course, we want to take advantage of such a uniformly inherited code and put it to use.  And so we have the analysis of mitochondrial DNA.  As you can probably tell from above, siblings from the same mother will have the same mitochondrial DNA.  It is fairly easy to know in regular social life when two people have the same mother as each child is at some point physically connected their mother.  Two people will have an identical mitochondrial DNA sequence if they are related by an unbroken maternal lineage.

A great advantage of the mitochondrial DNA analysis is the fact that it is much more stable than the rest of the DNA and is also retained in bodies for several years after death.  The human cell also contains thousands of copies of MtDNA vis-a-vis a single copy of nuclear DNA. In fact it has been possible to analyze fossils of cavemen DNA with the help of mtDNA analysis.

Irrespective of the method that is used for analyzing DNA evidence, rapidly sophisticating methods of DNA analysis continue to revolutionize and improve the use of forensic evidence as well as aid the courts in assuring justice and even to helping everyday people find family.

The case arose from the collection of DNA in 2009 from Alonzo Jay King Jr. after his arrest on assault charges in Wicomico County, Md. His DNA matched that collected from evidence in a 2003 rape, which eventually got him convicted. With this in mind, many crimes could be solved if a preemptive DNA sampling is put in place.

But then again this evokes a number of issues related to privacy and liberty – a practice that might run afoul with the Fourth Amendment, which generally requires a warrant or individualized suspicion before police may conduct a search. Would the police be allowed to collected samples from a speeding driver? If the practice applies for major crimes only, there is always the risk of interpretation, something a higher force could use to its advantage. This and more concern some of the Justices in court who are debating the subject, like Justice Antonin Scalia.

“This is a very reliable tool,” she said, “but it’s not based on any kind of suspicion of the individual who’s being subjected to it.”

Justice Samuel A. Alito Jr. thinks otherwise and believes this should be introduced.

“I think this is perhaps the most important criminal procedure case that this court has heard in decades,” he said, adding: “This is what is at stake: Lots of murders, lots of rapes that can be solved using this new technology that involves a very minimal intrusion on personal privacy.”

“Why isn’t this the fingerprinting of the 21st century?” he asked.

What will come of this, we can not say for certain, but ITSGOV is closely following the situation and will keep you posted as it unfolds.

For now, Justice Scalia said, the law’s purpose is “to catch the bad guys, which is a good thing.” But, he added, “the Fourth Amendment sometimes stands in the way.”

Researchers from Poland and the Netherlands who have recently developed a novel DNA forensics testing method that allows for establishing hair and eye color from modern samples have found that it is just as effective for  samples coming from very old remains too.

The  was developed as a forensics tool that feeds back physical characteristics like hair and eye color by looking at 24 DNA polymorphisms – naturally occurring variations. It’s been found, however, that the system could be used just as effectively on extremely old samples as well. For instance, in a paper recently published in the journal Investigative Genetics, the authors were able to determine the hair and eye color belonging to Medieval remains. Namely, one mysterious woman buried in the crypt of the Benedictine Abbey in Tyniec near Kraków, sometime during the 12th-14th centuries, as having dark blond/brown hair and brown eyes.

Painting of General Wladyslaw Sikorski.

“This system can be used to solve historical controversies where colour photographs or other records are missing. HIrisPlex was able to confirm that General Wladyslaw Sikorski, who died in a plane crash in 1943, had the blue eyes and blond hair present in portraits painted years after his death. Some of our samples were from unknown inmates of a World War II prison. In these cases HIrisPlex helped to put physical features to the other DNA evidence,” the authors explain.