Using Disposable Income for Genetic Tests

by Dr. Hsien-Hsien Lei
Posted May 6, 2008 in DNA Testing

The New York Times reported this past weekend that more people are having problems obtaining affordable health insurance. On top of the budget constraints people face during a recession, even those who are covered by employer health insurance have to deal with “some combination of higher premiums, less extensive coverage, and bigger out-of-pocket deductibles and co-payments.” This means that many skip routine check-ups and avoid seeing the doctor unless absolutely necessary.

The majority of U.S. tax payers this year will be receiving several hundreds of dollars in tax rebates. Here’s what people plan to do with the money according to a survey by the NPD Group :

• 42% would pay bills
• 21% would put the money into savings
• 12% would spend the money on discretionary items

How does this affect the potential market for genetic services? If people can’t even afford to pay for necessary maintenance medication, eye glasses, or diabetes test strips, how do personal genomics companies expect to expand their market for elective health services? And yet, direct-to-consumer genetic testing is more widely available in the U.S. than in any other country.

Where socialized medicine prevails in countries such as the UK, Singapore, and Iceland, it seems that people would have more disposable income to spend on optional healthcare. It would be interesting to see the uptake of personal genomic services in countries other than the U.S. although culture and legalities would be important factors as well. For example, are Icelanders more interested in and willing to spend money on personal genomics given that one of the more successful personal genomics companies, deCODE genetics , is based in Iceland and has published studies closely examining its citizens?

Eventually, personalized medicine incorporating genetic information will become a fact of life. At that point, genetic testing will be routinely covered by insurance as with any other laboratory test or become a hidden cost when pricing pharmaceuticals, i.e., a pharmaceutical company would cover the cost of a genetic test in order to determine type and dosage of a particular medicine. For now, however, it seems that it would be hard for most people to justify spending any of their disposable income on genetic tests or scans unless family history or other known medical conditions alert them to the need for extra information and vigilance.

How are you using your disposable income?

(4 comments)

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.

(4 comments)

DNA Video: Leah Sparks of DNA Direct

by Dr. Hsien-Hsien Lei
Posted April 26, 2008 in Business of DNA, DNA Podcasts and Videos, DNA Testing

Interview with Leah Sparks, VP Business Development of DNA Direct from Doug Cress on Vimeo.

San Francisco-based DNA Direct* has created a web- and phone-based virtual genetics clinic. Genetic testing results can be complex, and inmost cases, do not provide definitive “yes” or “no” answers. DNA Direct focuses on personalized test result interpretation and supportive services.

*I’m the Genetic Information Specialist at DNA Direct.

(>> Start a discussion!)

American College of Medical Genetics Policy Statement on Direct-to-Consumer Genetic Testing

by Dr. Hsien-Hsien Lei
Posted April 24, 2008 in DNA Testing

The American College of Medical Genetics (ACMG) has just released their “5 minimum requirements for any genetic testing protocol.”

1. A knowledgeable health professional should be involved in the process of ordering and interpreting a genetic test.
2. The consumer should be fully informed regarding what the test can and cannot say about his or her health.
3. The scientific evidence on which a test is based should be clearly stated.
4. The clinical testing laboratory must be accredited by CLIA, the State and/or other applicable accrediting agencies.
5. Privacy concerns must be addressed.

Michael S. Watson, PhD, FACMG, executive director of the American College of Medical Genetics:

Geneticists and genetic counselors are the “professional guides to the human genome” and can help patients make informed decisions about choices related to genetic testing and provide invaluable support and guidance in interpreting test results in light of personal and family history. This is not an area where people should really “go it alone.”

Click here for the full ACMG policy statement (pdf).

In May, ACMG will be broadcasting a medical genetics radio program in a SkyRadio Network show - 21st Century Health Forum. It will air on audio-equipped flights of American Airlines and Northwest Airlines. Let me know if you catch it!

via EurekAlert!

(2 comments)

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.

(1 comment)

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!

(6 comments)

DNA Direct Announces DNA Perspectives

by Dr. Hsien-Hsien Lei
Posted April 18, 2008 in Business of DNA, DNA Testing

An editorial in the April 10, 2008 issue of Nature discusses “transparency and honesty” in the genetic testing industry. One suggestion was to create a registry in lieu of greater federal regulation. Such a registry would include data about genetic tests and the evidence that supports making such tests commercially available.

Such a registry should be international, harmonizing information in what will doubtless be an industry without borders. This approach seems preferable to stepped-up regulation by agencies such as the Food and Drug Administration (FDA), which — in addition to travelling at the snail’s pace of bureaucracy rather than the lightning speed of burgeoning markets — could easily have the effect of driving less-than-desirable players underground, where sub-standard tests will remain as easy to buy as black-market DVDs.

Daniel MacArthur at Genetic Future has more on the editorial. I’ve also helped DNA Direct, where I work as a genetic information specialist, write a response to the editorial (pdf) in which we announce the DNA Perspectives initiative.

DNA Perspectives will be a collaborative site developed by a wide range of industry experts to objectively evaluate the clinical validity and utility of genetic markers as well as commercially available genetic tests.

Unlike other genetics resources currently available on the Web, DNA Perspectives is designed specifically to assist consumers in evaluating genetic discoveries and commercially available genetic tests with the use of our exclusive rating system. A DNA Perspectives wiki with the latest and most relevant genetics information will be created and maintained by invited genetics experts. DNA Perspectives will be available to the public for free. It is based on the principles of the open source movement: transparency, permeable access, and collaboration. In addition, a special forum will be open to consumers for their comments and personal ratings of genetic tests.

If you’re interested in being updated as DNA Perspectives develops or perhaps becoming involved as an expert contributor, you can submit your email at the DNA Perspectives page.

(5 comments)

The Next Generation’s Perception of Genetic Testing

by Dr. Hsien-Hsien Lei
Posted April 17, 2008 in DNA Testing, DNA in General

Don’t miss it! An active discussion of the good and evil sides of genetic testing is now taking place over at this Eye on DNA post (with further discussion at Gene Sherpas). Many of the commenters are American college students who have some interesting viewpoints. Some are at one extreme advocating total clamp down and ban on direct-to-consumer genetic testing. And others are on the other extreme with little to no faith in government regulation.

Ashton raised some interesting points about children and genetic testing:

Another reason why DTC raises my suspicions is not knowing who has access to DTC? Is there an age requirement, and if so, what is it and how do you determine the age at which you can have a genetic test? If genetic tests are not available to peoples under eighteen, can parents sign for their children to have the tests? What if parents decide to force their children to take the genetic tests without their consent? On the other hand, let’s say you can get a DTC at any age. Does a child, anyone under the age of eighteen, have the ability to decide what to do with the information gained from the test?

VT also issued a list of “shoulds” to both companies and the government.

In the pre-college crowd, the American Society of Human Genetics (ASHG) studied 500 essays submitted by high school students to the National DNA Day Essay Contest in 2006 and 2007 (pdf of study). They found that a significant number of of essays demonstrated “obvious” misconceptions about genetics. (More from The Genetic Genealogist.)

Many high school students who submitted essays to the contest appeared to be unaware of polygenic inheritance and believed that “one gene is always responsible for one trait or one gene with one mutation always causes one disease.” This misunderstanding is particularly worrying if these students are future (or perhaps even current) consumers of genetic testing.

Due to advances in genetic screening, genetic technology, the promise of individual genome sequencing, and other progress in the field of genetic research, it is more important than ever for the public to have a critical understanding of basic genetic information. This understanding will be vital for individuals to be informed advocates for their own health care when it comes to providing consent for testing and treatment as well as for being able to understand and interpret test results accurately. This will become an even greater need as private companies begin to provide genetic tests through mail order such that individuals can test themselves at home without the consultation of a physician (Advisory Committee on Genetic Testing 1998). For patients to understand the tests and results, and their own risk, they must be able to understand the biological underpinning of the tests themselves. Furthermore, as genetic research becomes more firmly embedded in medical practice and care, the public must be able to make informed decisions regarding specific pieces of legislation. Multiple studies, including this one, demonstrate that the current classroom methods for genetics instruction are not developing a citizenry with accurate mental models of inheritance and the genetic basis of disease (Henderson and Maguire 2000).

Rather than being dismayed at the current state of understanding among the next generation, I am encouraged that genetics is being taught and discussed. The level of understanding expected of students today is nothing like what I taught myself 25 years ago for my grade school science fair project.

Back in 1983, the Human Genome Project hadn’t been launched yet and it was the year Kary Mullis invented PCR (according to the Genome News Network, although other sources point to 1980). My elementary school didn’t have much of a science education curriculum let alone labs where we could try to extract DNA or practice RFLP DNA fingerprinting. So I was left to my own devices without even the Internet to help me do research! *GASP*

My genetics science fair project had a three part display board. On one section, I had diagrammed Mendel’s pea experiment and on another section, I created a family tree showing pictures of my mother and father plus baby pictures of my sister and me. The most difficult part of the project was creating the DNA helices out of pipe cleaners for the sides and rungs of the “ladder” and construction paper for the bases. Later on in eighth grade, our science teacher allowed my lab partner and I to experiment with Drosophila melanogaster crosses (sadly, we drowned most of the fruit flies with ether).

The contrast between my early genetics education and genome science fair project ideas, such as those listed at Science Buddies, is so huge as to be embarrasing.

What was your first educational experience with genetics?

(4 comments)

Eye on DNA Headlines for 15 April 2008

by Dr. Hsien-Hsien Lei
Posted April 15, 2008 in DNA Testing, Eye on DNA Headlines

• Please welcome The Skeptical Alchemist and Think Gene to The DNA Network. They are the Network’s 51st and 52nd members!
• Andrew Meyer of Buzzyeah has been going through his 23andMe results and was also featured in this week’s Newsweek article - May We Scan Your Genome?
• DNATraits is offering a discount on their Ashkenazi Jews Genetic Disease Package in celebration of Passover this month. (HT: Tracing the Tribe)
• DNA Direct* has partnered with Navigenics to offer their members further medical diagnostic tests for specific medical conditions.
• Tickets are now on sale for Xconomy Forum: Boston Life Sciences 2028 scheduled for April 29 from 6:00 - 8:30 pm at Harvard Medical School. Nobel Prize-winning MIT biologist Phil Sharp, Flagship Ventures managing partner and CEO Noubar Afeyan, and Raju Kucherlapati, scientific director, Harvard Partners Center for Genetics and Genomics, and professor of genetics and medicine, Harvard Medical School, will be leading the discussion.

*I work with DNA Direct as a genetic information specialist.

(>> Start a discussion!)

Let’s Talk About Direct-To-Consumer Genetic Testing

by Dr. Hsien-Hsien Lei
Posted April 15, 2008 in DNA Testing

Call for opinions on direct-to-consumer (DTC) genetic testing! I know there’s no shortage around these here parts.

Students from a molecular biology class in South Carolina have been asked to discuss DTC genetic testing in a Web 2.0 setting. The venue is right here at Eye on DNA in the comments section of the following post:

Direct-To-Consumer Genetic Tests - Good or Evil?

The discussion is already off to a great start. If you have a few minutes, please come join us!

Thank you!!

(3 comments)