Gene Patents and Genetic Testing

by Dr. Hsien-Hsien Lei
Posted April 29, 2008 in DNA Testing, DNA and the Law

The European Society of Human Genetics (ESHG) has published recommendations on gene patents as applied to genetic testing in the European Journal of Human Genetics. The chair of the working group, Professor Gert Matthijs of the Catholic University of Leuven, said:

This new proposal aims to reconcile what until now have appeared to be conflicting interests patent owners, commercial companies, health authorities, policy makers, geneticists with the ultimate goal of ensuring that patients retain access to the latest technological advances.

Key points include:

1. Patents benefit society through innovation and promoting progress.

2. The definition of “invention” vs. “discovery” with the identification of genes, mutations, links between genetic defect and disease are deemed to be discoveries by some and thus would be unethical to patent.
3. Patenting novel technical tools for genetic testing is a good way to promote investment and allow for invention.
4. Genetic tests that examine a panel of genes will be impacted negatively by gene patents.
5. Genetic tests combined with protein or metabolite measurements will also have to consider multiple patents.
6. Patent applications do not take into account clinical validity and utility.
7. There are international differences in patent systems which affect the availability of genetic services worldwide.
8. Gene patents are overly broad and include not just the sequence but also protein and antibodies, etc.

Access to genetic testing can be impeded every step of the way from the discovery of new genes and mutations all the way up to availability of genetic tests. Right now, most of us concentrate on who has the right to have a genetic test and how. Another consideration clearly has to be who will develop the genetic tests and what intellectual property rights they have over their work.

As Michael Crichton said in a New York Times op-ed against gene patents:

Gene patents are now used to halt research, prevent medical testing and keep vital information from you and your doctor. Gene patents slow the pace of medical advance on deadly diseases. And they raise costs exorbitantly: a test for breast cancer that could be done for $1,000 now costs $3,000.

Should we prohibit the patenting of genes? Take the poll in this previous Eye on DNA post.

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Genetic Information Nondiscrimination Act (GINA) Nears Unanimous Consent Passage in U.S. Senate

by Dr. Hsien-Hsien Lei
Posted April 23, 2008 in DNA and the Law

About an hour ago, Sharon Terry of Genetic Alliance sent out an email regarding the Genetic Information Nondiscrimination Act (GINA). Here’s an excerpt:

OK all – unbelievable as it is, GINA is all set for UC [unanimous consent] passage in the Senate!!!

There is not time today to do the roll call vote, so the big day is tomorrow. The Senate convenes at 10 AM, but we do not know what time the Bill will come up.

GINA was first proposed in 1995 by Louise Slaughter, a House Democrat from western New York. According to the New York Times, if the bill is brought to the Senate floor tomorrow, debate would be limited to two hours with one amendment to address the possibility of employers being sued.

Under GINA:

• It would be illegal for insurance companies to raise premiums or deny coverage based on genetic information (see Genetic Testing and Health Insurance in the New York Times)
• Employers are prohibited from using genetic information to hire, fire, promote, or assign jobs (see Want a job? Submit your DNA)

Life and long-term care insurance coverages, however, are not part of GINA.

For more information, visit Coalition for Genetic Fairness.

Update (24 April 2008): GINA passed the Senate by unanimous consent of 95-0. Now it will be sent to President Bush so that he can sign the measure into law.

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Eye on DNA Headlines for 22 April 2008

by Dr. Hsien-Hsien Lei
Posted April 22, 2008 in DNA Around the World, DNA Testing, DNA and the Law

• Rick at My Biotech Life hosts Gene Genie : the better late than never personal genomics special edition.
• Please welcome Pamela Ronald at Tomorrow’s Table to The DNA Network. She’s our 53rd member!
• Congratulations to Trisha on the relaunch of the Ideas for Women blog.
• Molecular biologists are in the movies. Peggy at Biology in Science Fiction looks at Splice starring Adrien Brody and Sarah Polley scheduled for release in 2009.
• Auckland University professor Andrew Shelling says personal genomics companies are offering “health horoscopes.” On the other hand, he admits that access to genetic testing in New Zealand is very limited.

  “New Zealand is doing an appalling job of providing adequate genetic testing. We’re well behind Australia and the rest of the world.”
  
  So what’s an info-seeking person to do?

• Here’s a genetic genealogy quagmire. DNA testing of children from the polygamist religious group in West Texas to sort our* out family relationships has commenced. Problem is, many of the children are closely related and have parents who are genetically related as well.

  Because of the group’s isolation, Dr. Einum said he thought it was likely that the parents of any given child were related by a common ancestor, and that any man examined as a possible father could share genetic traits with many other men in the group.

*No, I’m not affiliated with the FLDS.

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Personal Genomics Takes a Bashing on Physician Oversight, Financial Backing, and Privacy

by Dr. Hsien-Hsien Lei
Posted April 21, 2008 in Business of DNA, DNA Testing, DNA and the Law

Direct-to-consumer genetic testing just can’t catch a break lately. We can expect blogs to be snarky but who knew Forbes and BusinessWeek could invoke a similar tone when writing about personal genomics?

First up, Forbes reveals that New York State’s Department of Health has sent letters to a number of personalized genetic testing companies threatening fines and jail time if they’ve been offering their services without a doctor’s involvement. The concern is that customers may not be able to understand their results and be potentially misled as to their risk of disease.

Both 23andMe and DeCode, which has not received a warning letter from New York so far, argue that the lab testing laws don’t apply because their products are not medical tests. “23andMe’s services are not medical … they are educational,” argues 23andMe spokesman Paul Kranhold.

That argument doesn’t mean spit to the New York regulators, who are concerned about the reliability of the online tests and their potential to send people rushing to their doctor demanding a cure for a fatal disease they may never get. [emphasis added]

BusinessWeek focuses on the financial aspect of the big players in personal genomics–23andMe and Navigenics–pointing out that both companies have received funding from Google. The company’s spokesman, Andrew Pederson, says that Google is “interested in supporting companies and making investments in companies that [bolster] our mission statement, which is organizing the world’s information and making it universally accessible and useful.” The difference between the offerings of 23andMe and Navigenics is portrayed as being interesting, broad-based information vs. valuable, medical-based information.

[Navigenics co-founder David] Agus, director of the Spielberg Family Center for Applied Proteomics at Cedars-Sinai Medical Center in Los Angeles, treats Hollywood celebrities, Saudi royalty, and others with deep pockets, but he conceived the company as a way to avert costly diseases.

Neither article mentions concerns over genetic discrimination and privacy which underlie discussions about regulation and access to genetic data. Two comments to the BusinessWeek article debate the issue.

Nicholas Bolibruch:

To all the naysayers, if you want nothing to do with this, just don’t use the service. Google cannot become big brother unless you voluntarily offer genetic material and make accounts on their system. The benefits of preventative health far outweigh the potential privacy violation. If you don’t like it, don’t use it, simple as that. I’m sure the person who gets genetic screening done and finds out they have a predisposition to some form of disease will be happier knowing they maybe able to prevent the problem in advance. When this saves someone’s life, all the naysayers will certainly have egg on their face.

Gerald:

You cannot say “if you don’t want it, don’t use it.” This creates a negative discrimination for non-users, making them suspicious to insurance companies, employers, etc. It’s the same reasoning totalitarian governments all over the world have always been using: “If you have no reason to hide, let yourself get registered by the authorities.” This opens all the door to neo-facist social structures and as a German for sure I will do all what I can to see history repeating itself, although with different names and forces of a globalised company now behind the same scheme of domination of personal liberties.

But perhaps privacy, confidentiality and consent for research will be moot in the future according to the proposal for an open-consent framework put forth by Lunshof et al. in Nature Reviews Genetics. More from DNA Network members:

• A new model for genetic privacy: you don’t have any at Genetic Future
• Private parts at Genomeboy
• Piracy or Privacy? Some Thoughts. at Gene Sherpas

If anyone ever organizes a biosciences startup school, they need to put regulatory affairs, investment choices, and privacy concerns on the syllabus!

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How to Fake a DNA Test

by Dr. Hsien-Hsien Lei
Posted April 13, 2008 in DNA and the Law

Most people who buy DNA test want to know the truth but there are others who want to evade it.

In 1992, Dr. John Schneeberger implanted a plastic tube in his arm filled with someone else’s blood. He had been charged with two counts of sexual assault in Saskatchewan, Canada. When ordered to provide a blood sample, Schneeberger drew the blood himself from the plastic tube instead of his vein. He was eventually deported and sent back to South Africa.

In March 2007, four Massachusetts men were charged with attempting to tamper with DNA testing. They apparently tried to trade ID bracelets when having their blood drawn but was caught when their fingerprints didn’t match the samples. I’m not sure what became of them but they faced a sentence of up to five years in jail.

And in a paper published in the Journal of Forensic Sciences, Dr. Jose Antonio Lorente Acosta at the Laboratory of Genetic Identification of the University of Granada found evidence of fraud in a paternity test case. The suspect had applied another person’s saliva to the inside of his mouth prior to having DNA samples taken with a cotton swab.

And what about accurate DNA analyses that are reported INaccurately? I’m sure there are unscrupulous DNA testing services worldwide that will give people any results they want for whatever purposes they need it for, e.g., immigration. Not to mention people like Simon Mullane, a British businessman who made-up paternity test results rather than actually doing the testing. Makes you think twice about the accuracy and validity of DNA testing, doesn’t it?

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DNA Testing for U.S. Immigration

by Dr. Hsien-Hsien Lei
Posted March 26, 2008 in DNA and the Law

Allan Wernick of New York Daily News answers an anonymous question about the use of DNA testing for U.S. immigration.

Q I am a U.S. citizen. I want to petition for my father, but his name isn’t on my birth certificate. Must we have a DNA test to prove our relationship?

Name Withheld, Brooklyn

A A DNA test is the best way to prove a father-child relationship. Properly done DNA tests are 99.9% accurate in determining fatherhood. However, the test is expensive. An alternative is providing “secondary evidence.” Examples of secondary evidence are affidavits from your mother or a friend or relative who has knowledge of your relationship, an affidavit from someone present when you were born, or a copy of a page from a family Bible or other document recording your birth.

Sometimes using secondary evidence causes delays. What would I do? If your father is in the United States and interviewing for permanent residence here, try proving your relationship without the DNA test. If he will be applying at a U.S. consul abroad, getting the test before he goes to his interview may be worth it. A U.S. consular officer may question your relationship even if the USCIS has already approved your petition. If that happens, your father could get stuck abroad for a long time. Of course, if money is not an issue for you, go ahead and do the test. That way you can be sure that no one will question your relationship.

Wernick refers readers to the U.S. Department of State Bureau of Consular Affairs - DNA and Parentage Blood Testing. The document explains the different types of parentage testing, including nuclear DNA testing and mitochondrial DNA testing. There’s also a discussion of parentage blood testing that analyzes basic red cell antigens, extended red cell antigens, red cell enzymes and serum proteins, and white cell enzymes. I’m assuming parentage blood testing is less expensive than DNA testing or there’s no reason why applicants would not opt for the more straightforward DNA tests.

Note that for legal purposes, those $99 at-home paternity tests won’t suffice because they are undocumented and DNA samples are collected at home and mailed by the participants. When DNA test results are required by a court of law or for immigration purposes, a chain-of-custody DNA test is needed in which an uninvolved third party would vouch for the identification of the parties being tested, including photographs and fingerprints. DNA samples are clearly documented and tracked throughout the process. For more information, see these top 5 commonly asked questions about chain-of-custody DNA testing from DNA Diagnostics Center*.

*I have no direct affiliation with this testing company.

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Ethics of Whole Genome Research

by Dr. Hsien-Hsien Lei
Posted March 25, 2008 in DNA and the Law, DNA in General

Yesterday, I touched on how consumers can prepare to use their genetic information to gain access to personalized medicine. On a related note, consumers should also be prepared to consider options for contributing their genetic information to research efforts. Commercial companies, such as 23andme, have made no secret of their desire to use their customers’ data for “the greater good.”

While we measure many hundreds of thousands of data points from your DNA, only a small percentage of them are known to be related to human traits or health conditions. The research community is rapidly learning more about genetics, and an important mission of 23andMe is to conduct and contribute to this research. By obtaining 23andMe’s services, you are agreeing to contribute your genetic information to our research efforts as described below. These efforts could translate into meaningful information about your genetics. [emphasis added]

The ethics of whole genome research in both the private and public sectors are explored in a consensus statement published in PLoS Biology. The following considerations are mentioned and recommendations for the first four are given.

• Consent
• Duty to recontact study participant
• Right to withdraw from research
• Return of research results
• Public data release
• Commercialization
• Patenting
• Benefit sharing
• Genetic discrimination

I must admit that discussion of ethics generally baffles me because I get so caught up on both sides (or maybe there are more than two sides?!). So I direct you to the Predictive Health Ethics Research (PredictER) Blog for further discussions of thorny issues surrounding genetics. PredictER is based at the Indiana University Center for Bioethics.

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More on Collecting DNA from Children for National DNA Databases

by Dr. Hsien-Hsien Lei
Posted March 20, 2008 in DNA and the Law

Sara Gaines at Guardian’s Joe Public blog has outed me as a bully in a discussion about children’s DNA in the UK national database. There’s also more from Evan Maloney at the Splat! Blog who coins the word “DNAed” for someone whose DNA is being collected:

Personally I’m all for the idea of dobbing in five year olds to the cops before they break the law. What a change in class-room behaviour that would create for primary teachers. Next time Wally the class clown is cracking jokes instead of listening to teacher, the teacher can respond with a sharp, ‘Listen Wally, if you don’t shut it right now I’m going to take a sample of your DNA and send it to the cops!’

On that note, I wonder what sort of behaviour would qualify for DNA sampling of five-year olds? Would it have to be violent or could any disruptive kid qualify for sampling? Maybe kids who keep forgetting to bring their books to class can get DNAed just because they’re annoying.

One Splat! Blog commenter NanaMex ponders a sci-fi scenario:

Of all of the uses of science this one scares me the most. Imagine, if you will, DNA specific viruses aimed at wiping out persons of specific heritage. This thought first came to me when the murder happened on Norfolk island and the DNA of every person living on the island was collected. There you have a genetically unique group of people, and the island would be a perfect laboratory for such experimentation.

With a gene data base such as would be collected under this kind of program genetically specific viruses would be easier to fabricate. Imagine being able to commit genocide, wiping out specific races, without harming those around them.

This idea is very similar to the premise of The Odyssey Gene by Kfir Luzzato in which the population is segregated into those who have or don’t have a specific variant of the “Davies Gene” that grants immunity to a fatal infectious disease.

And yet another Splat! Blog commenter, harlequin of sydney, penned a poem:

If you go into school today
Be prepared for a big surprise
They’ll take a sample of your DNA
If they catch you telling lies
Or handing homework in too late,
not doing what you’re told,
Asking little Nancy for a date,
Being forward and way too bold

So here’s my advice, handle it this way:
Take your homework in on time
Volunteer a bubble of your DNA
It makes a paper-glue sublime
Then when you hand your homework in
Watch the expression on teacher’s face
When they realise why you didn’t need a pin
And why your work is all white space

By the way, it is highly likely that we’ll have international DNA databases in the future. The U.S. and Germany are already talking about sharing fingerprint and DNA data with each other.

What do you think of collecting DNA from children? Take the poll in the right sidebar.

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Collecting DNA from Innocent Children to Prevent Crime

by Dr. Hsien-Hsien Lei
Posted March 17, 2008 in DNA and the Law, Polls About DNA

If it were up to Gary Pugh, director of forensic sciences at Scotland Yard and the new DNA spokesman* for the Association of Chief Police Officers (Acpo), my DNA would have been put in a national database from the time I started school. Yes, I admit I was a little bully and perhaps that would have identified me as a future offender although I don’t think I’m quite bad enough to lock up. Yet….

Pugh claims that criminology studies show children as young as five will behave in ways which predict their potential to commit crime in the future. These “problem children” should have their DNA collected for crime prevention.

If we have a primary means of identifying people before they offend, then in the long-term the benefits of targeting younger people are extremely large. You could argue the younger the better. Criminologists say some people will grow out of crime; others won’t. We have to find who are possibly going to be the biggest threat to society.

By committing children’s DNA to the national database, Pugh asserts that society will save money and suffer less crime. It’s estimated that in the UK, 1.5 million samples of DNA from 10 to 18-year-olds will be in the national DNA database by March 2009. Similar collection procedures apply to juveniles as well as to adults who can be asked to give a DNA sample upon arrest even if they are not charged or convicted.

A recent report from the think-tank Institute for Public Policy Research (IPPR) called for children to be targeted between the ages of five and 12 with cognitive behavioural therapy, parenting programmes and intensive support. Prevention should start young, it said, because prolific offenders typically began offending between the ages of 10 and 13.

As a parent, I have observed that certain children do seem to exhibit more “problem” behavior than others but it is very difficult to tell whether that is due to evil temperament that won’t change or if it’s the result of family environment or who knows what other mysterious factors that mold our behavior. No criminology assessment can be 100% predictive and there is no way I would allow my child’s DNA to be systematically collected for a DNA database unless every single citizen is mandated by law to give theirs too.

Pugh suggests that we stop thinking of DNA so emotionally.

Fingerprints, somehow, are far less contentious. We have children giving their fingerprints when they are borrowing books from a library.

I did not know libraries fingerprint their users but guess what? I think it’s nuts too!

Putting aside that no sane adult would want their DNA in a national database without good reason, what about our children? What kind of world are we living in when innocent children are viewed not in terms of their positive potential but in terms of their criminal potential?!

What do you think about collecting DNA from innocent children? Take the poll after the break.

*DNA spokesman? Sounds like a newly created job title. If you’re looking for a DNA spokesperson, email me! I’m available.

Continue reading…

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Genetic Testing and Health Insurance in the New York Times

by Dr. Hsien-Hsien Lei
Posted February 24, 2008 in DNA Testing, DNA and the Law

Genetic information should by rights be our own to share when we think it’s appropriate. The reality, however, is not so straightforward. In today’s New York Times article, Fear of Insurance Trouble Leads Many to Shun or Hide DNA Tests, Amy Harmon writes of people who have a very real fear of having to pay jacked up insurance premiums or being denied insurance altogether. The problem may be especially bad in the US where health insurance is not a citizen’s right.

The culture of secrecy around genetic information is stronger in the United States, some experts say, than in countries where people are guaranteed health care.

In the UK (where I currently live), medical genetic testing is available through the National Health Service (NHS). While there does not appear to be any issues regarding insurance coverage should a person test positive for a disease-causing mutation, greater issues are availability and timeliness of testing and results. Also, many UK citizens have private insurance through their employers in addition to their free NHS insurance.

Two years ago, Cancerbackup found in a survey of regional genetics centers that waiting time for appointments to receive a BRCA genetic test can be as long as nine months with a further wait of 1 to 2 years for results. In some ways, this could be construed as discrimination in that other forms of testing are probably taken more seriously and performed more speedily.

From CancerBackup regarding the Concordat and Moratorium between the Department of Health and the Association of British Insurers (lasting until November 1, 2011):

In the agreement, amongst other things, insurers give ten commitments on the information that they will ask of customers. For example, customers will not be asked to:

• have a predictive genetic test in order to obtain insurance
• tell them about a family member’s test results
• tell them about any predictive or diagnostic genetic test results acquired as part of clinical research
• tell them about any predictive test results that are made available after their policy has started, for as long as that policy is in force.

There are caveats to the Moratorium including one in which insurers can ask about Genetics and Insurance Committee approved predictive tests for policies over £500,000 of life insurance, or £300,000 of critical illness insurance.

Last June, BMJ debated the use of genetic information to determine insurance eligibility. I, along with other readers, sided with those who believe that insurance companies do not have an automatic right to our DNA data while HG Stern at InsureBlog disagreed .

…to the extent that such information is helpful to an underwriter, it’s in the realm of pricing (or whether or not to offer coverage at all). It’s really no different than knowing whether or not the applicant is a smoker, or a diabetic, or recently had knee surgery. All of this goes into the mix, and genetic information may (or may not) play some role.

Of course, the results of genetic testing may be moot if you have a strong family history of a certain disease. If so, a negative genetic test could work in your favor.

For other comments on the NY Times story:

• Schelly Talalay Dardashti - New York Times: Genetics and insurance
• John Hawks - DNA testing and health insurance
• Misha Angrist - Dear GINA…you never call, you never write
• Kevin Drum - DNA and the Insurance Industry
• Harold Pollack - Genetic discrimination: Misplaced worries, but right argument for health reform
• Doug Masson - Rewarding Ignorance
• Steven Murphy - Unfounded NYT article

Photo credit: “The life insurance office,” Wellcome Collection under Creative Commons

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