The Genetizen

Genetizen

Advances in genetics and biotechnology are impacting society in provocative ways. The Genetizen is written by a select group of scientists, bioethicists, and healthcare professionals who provide you with expert analysis and commentary on many important issues.

Disclaimer: Opinions expressed in blog postings may or may not reflect the opinions of Geneforum. In addition, the content provided here is purely informational and not a substitute for advice from your personal physician.



Genetic testing public forum at Portland State University

Population geneticists seeking to tell the larger story of humankind (the National Geographic Society's $40 million Genographic Project) have tens of thousands of Americans swabbing their cheeks and mailing their DNA to companies worldwide for testing. As reported in the cover story of the February 6 issue of Newsweek, "Genes & Family - What Science Can Tell You About Your History and Your Health," the "public interest is huge"- and growing.

What lies beneath the surface of the Web world of DNA testing? Is discovering our origins one of the most important functions of science and technology? Does the practice of mail-order genetic testing raise ethical and social issues worth exploring prior to the "swab and ship" process?

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Using microarrays and other complex technologies

Arrays of nucleotide or DNA sequences arranged in a microarray (gene chip) are being used for genotyping and expression profiling—as discussed in an earlier blog entry on DNA profiling vs. genetic testing. The microarrays are not limited to DNA and can also be used for RNA and proteins, including antibodies. According to an article in Nature Genetics, “regardless of the application, the resulting information can comprise thousands of individual measurements and provides an intricate and complex snapshot of biological properties of the cell, tissue or organ. . . . A number of potential clinical applications have begun to emerge as our understanding of these techniques and the data they generate improves.” [Source: http://www.nature.com/ng/journal/v32/n4s/pdf/ng1029.pdf ]

“Mutual scientific understanding of strengths and limitations of these technologies must be shared throughout the community in an open and transparent way”, suggest the authors.

The people doing the work need to explain the processes and their uses to the public and learn from the public which technologies are consistent with their individual and personal values. The Geneforum blog—and other sources of unbiased, sound information on the Internet and in media outlets available to the public—should provide the information people need. The consensus on what should be done with microarray technology must be based on sound science, balanced with public involvement.

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Can the results of a genetic test be used to deny insurance coverage?

Although most states (47) have laws in place prohibiting the use of genetic information in denying health insurance coverage, these laws do not generally apply to self-insured people or to companies with fewer than 50 employees. On the other side of the picture—insurance coverage of genetic testing—state laws focus primarily on state-mandated testing of newborns. According to Alissa Johnson of the National Conference of State Legislatures, “no state requires health insurance coverage of genetic testing for adult onset disorders, such as breast cancer, which may cost more than a thousand dollars.”

She suggests that legislators investigate the benefits of genetic screening and the potential benefit to individuals or families being tested. Addressing the inequalities in ability to pay for genetic testing, she states that “affordable access to these services may still be in the distant future.”

Aetna Chairman and CEO John W. Rowe, M.D., in a speech several years ago, recommended that the health insurance industry support legislation and consider adopting guidelines for access to genetic counseling and genetic testing. He suggested the following approaches:  

  • Cover genetic testing in individuals shown to be at risk where results may affect the course of treatment of the insured.
  • Cover genetic testing for a family member where the family member is not otherwise insured, and results may affect the course of treatment of an at-risk insured.
  • Cover consultation with qualified counselors and physicians, and facilitate the appropriate interpretation of genetic testing results.
  • Support physician education in the appropriate interpretation and use of genetic tests, including guidance in selection of medication (pharmacogenetics).

Sources: http://www.ncsl.org/programs/health/genetics/geneticshins2004.htm and http://www.aetna.com/news/2002/pr_20020617.htm

Marie Godfrey, PhD 

Genetizen's blog

Predictive genetic testing and cancer

Predictive genetic testing may help identify people who are at an increased risk for developing certain types of cancer. While this type of testing may indicate the absence or presence of a gene thought to be associated with a specific cancer (for example, the BRCA1 gene and one form of breast cancer), testing also carries many limitations and risks. Before undergoing genetic testing, you need to fully understand the process and its implications. here are some items to consider.

An accurate test may produce a positive, negative, or ambiguous result, but it cannot guarantee that a person will or will not develop cancer. As thorough a knowledge as possible of family history is perhaps the most important part of any genetic test. However, people with no information on their potential cancer ancestry can still learn some things from genetic testing. In the latter case, a person's pertinent genetic makeup can be compared to others in the general population or with similar ethnic ancestry.

Many experts recommend undergoing genetic testing only when a pedigree analysis suggests the presence of an inherited cancer syndrome for which a specific mutation has been identified. Other guidelines suggest that genetic testing should be pursued only when the test will impact future medical care and decisions.

Besides family history, another important element of genetic testing is the assistance of a genetic counselor. Generally, your family doctor has neither the knowledge nor the time to provide all the assistance you may need. Your doctor may, however, be able to help you find a counselor and arrange for testing and support.

Marie Godfrey, PhD 

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Genetizen's blog

DNA expression test--do it yourself!

The Genetic Science Learning Center, in my fair state of Utah, maintains a website for students and teachers with many interesting activities related to genetics. Yesterday, I checked out their interactive on DNA testing and found a clear explanation of the way in which gene activity is tested. In this case, DNA from a cancer cell was being compared with normal cell DNA and I became the bench scientist.

The action is definitely not in the league of online games, but the ability to move the lab equipment and the popup questions help you understand how expression testing works. At the end, there's an interactive question sequence related to interpreting the results. This is also quite good, and doesn't chastise you for guessing wrong.

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What's the difference between DNA profiling and genetic testing?

DNA profiling looks at repeated nucleotide sequences within inactive genes. Examining as few as 16 different locations in human DNA can yield very clear information on whether or not a DNA sample belongs to person A. This is how DNA analysis is used in forensic profiling. This is also what is now commonly referred to as a "DNA fingerprint". By the way, the techniques have changed in the past 10 years or so, so results from 10 years ago may not be comparable with results of today's analyses.

Paternity testing done by profiling requires samples of the purported father and the "child" (that is, the presumed offspring). The mother's DNA is not necessary, but can be helpful. In this case, a sample from each person can be profiled and the profiles compared visually or electronically. Alternatively, the samples can be tagged with two different fluorescent markers, mixed and analyzed--looking for similarities and differences. Lineage testing (maternal, paternal, ethnic) uses the latter technique, which is more prone to error.

Genetic testing for particular gene sequences (active DNA, for example, a particular cancer gene) can be done with DNA directly or by examining DNA's "expression"--messenger RNA. Here, the techniques are much more complex and subject to error and variations in interpretation.

Then we get to the most complex and weakest aspect of genetic testing--inferring phenotype (appearance, function, likelihood of disease, etc.) from genotype. Here, there may be lots of literature and hype, but little clear connection between a test and the prediction of a person's future. Even "known" genes may have many variants and results without supportive genetic counseling can cause more harm than good. 

Marie Godfrey, PhD 

 

Genetizen's blog

Another stem cell bank

Researchers in Australia are hoping that people will bank their bone marrow cells to provide themselves with a source of stem cells if they are injured or develop heart disease later in life. The cells of interest are not the usual hemapoietic cells (the ones that can form blood cells), but mesenchymal precursor cells (MCPs). These cells are the ones thought to be more likely to produce other cells of the body.

Animal studies--according to the news report--have already been shown that the cells are not rejected in unrelated recipients. Human studies are to be conducted soon. So far, the cells have been used in attempts to promote bone healing in patients with injuries that are slow to heal.

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Would you donate your DNA?

YOU might donate blood to save someone's life. But, would you donate your blood, your DNA, and your most intimate medical secrets on a promise that it may help save a life years from now?

These are the questions asked in an article today in the New Scientist

Once again, the public is being asked to donate the code that makes each of them a unique individual to a study intended to link genes and diseases. Once again, the promise is cures of devastating diseases. Would you join the group that will donate a small blood sample?

You have a while to decide--unless you live in the UK or in Iceland. The project called Biobank is not expected to start in the US in the near future--it's still in the planning stage, according to the New Scientist. Here's how the Iceland, UK, and US projects differ:

The Icelandic studies focused on spotting gene variants in people who already have specific diseases or family histories of disease, and comparing them with those of healthy people. The proposed British and American studies are far more ambitious, as they will recruit people who are healthy at the outset and then wait to see which of them falls ill. Scientists will record environmental factors, such as people's diets, in real time, rather than relying on patients remembering what they ate in the past, in the hope this will help reveal factors other studies miss.

In addition,

...the organisers of the US project are considering using microchip-based devices such as rings, bracelets and body patches to keep a continuous check on volunteers' heart rate and blood oxygen levels. Participants' cellphones could be rigged up to transmit data on physiology and diet, and microchip-based sensors could be placed around the body to record other data such as exposure to radiation, or even what they consume, including alcohol and tobacco.

The £61 million UK Biobank project, funded by the UK Medical Research Council, the Wellcome Trust and the government health ministry, will rely more heavily on health records and diagnoses of family doctors to keep tabs on its subjects. It will also take detailed recordings of subjects' body fat, blood pressure and weight, use lifestyle questionnaires, and take blood and urine samples when people are recruited into the study.

Are we getting ever closer to carrying our genetic codes on our foreheads and transmitting to some "secure" database our actions, environment, and even our thoughts?

Marie Godfrey, PhD 

 

 

 

 

Genetizen's blog

What is the cost of genetic testing?

Would you ever consider ordering something online that you don't know the cost of? Apparently the laboratory that controls the market for BRCA (breast cancer) genetic testing expects potential customers to do just that.

If you go to Myriad's website and click on the button for ordering a genetic test for BRCA1 or BRCA2, or both, you'll fill out a form asking for information on one or more of the tests available. No cost is indicated; the site doesn't even say, "information is free; you won't be charged until you request an actual test". If you go to the page on reimbursement, you'll find a statement that the average person who uses insurance coverage can expect to pay $300.

Ummm, according to the articles I've read on cost, there may be a zero missing from that number--particularly if you have no insurance or choose not to use it. Tests can be as low as $300, but could also be as high as $3000. The formal "test request form" you send in with your blood sample asks for credit card and/or insurance information, but again, no numbers are given. The information page on reimbursement adds the following warning:

Canceling the Test
If you cancel a test within 48 hours of the blood draw, you will not be charged. However, after 48 hours, you are responsible for payment, even if you decide not to receive test results.

Sounds to me as though you really need to have your ducks in order before you "decide to have a test". Of course, you can use the 800-number; perhaps you'll reach a person who knows and will tell you how much the test costs.

Marie Godfrey, PhD

Blog Entry | Genetic testing

Genetizen's blog

Ethics in research

The news is full of articles on Hwang and the failure of his stem cell research to hold up to external scrutiny. And this weekend, an unnamed researcher in another country admitted to fabricating data on the protective properties of particular drug. Nature magazine has published its plans to examine articles on cloning. Is there no honesty in today's world?

We're told by some that part of the problem is the quest for glory and a place in history. Mendel--a monk at that--probably selectively eliminated data from his presentation of studies with sweet peas. As a mathematician, he recognized the results of binomial distribution and, coincidentally, reported on the inheritance of 7 different charactersitics. After chromosomes were discovered, and people learned that genes on the same chromosome tend to be inherited together if the chromosome is not too long, we recognized the low probability of Mendel selecting only 7 genes and having them separately inherited. Perhaps there were other data Mendel chose to not describe because they didn't fit his scheme for inheritance.

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Patents and commercial applications

Ever since I learned that genes (DNA sequences) are patentable, I've been concerned about how patents of this type affect the public and public health. The entire human genome is not patented, but an individual gene--that is, a specific DNA sequence and its association with a particular condition--can be patented. The company that holds the patent can then develop a genetic test for that gene and "own" both the gene and the test until the patent expires.

Now, I learn that a cell can be patented. And this cell can be one taken directly from a person by standard blood-letting techniques. A news release today states that "Australia's stem cell company" [name omitted on purpose] has been granted a patent for "the  composition of matter relating to a unique population of adult stem cells known as mesemchymal precursor cells (MCPs)" [according to the news release].  

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Everyone welcome!

Whether you've reached this blog for the first time, or have been reading it regularly, you may be wondering who Capstone and FRINQ are. As one of the hands-on Geneforum activities, Greg Fowler--our guru and founder--works with students at Portland State University in Portland, OR in a class called Democracy, Ethics, and Civic Discourse in the Gene Age. This year both seniors and freshpeople (eek!) will be participating and there are numerous invited facilitators, including me.

The culmination of the class is a Capstone Public Forum (2-4 pm March 13, 2006, PSU SMU 238) Direct-to-Consumer Online Genetic Testing: Science or Snake Oil? As part of the work, students will be creating a consumer's guide to direct-to-consumer online marketing of DNA tests.

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Welcome Capstone and FRINQ!

Welcome, everyone. I am the one currently responsible for the blog on genetic testing and stem cells. By clicking on Genetizen at the top of the home page you can see everything written since I started more than 6 months ago.

As stem cell blogs go, Genetizen is intended to be a bit different. I try not to send readers off to another location by only highlighting the daily news and providing links. As a geneticist and someone very concerned with the ethics of research, I try to find a variety of topics I think will be interesting to readers and place those topics in a context somewhat different from what you find elsewhere.

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Gender test questioned by more parents

The uproar about Acu-Gen’s Baby Gender Mentor continues. The test—advertised on the provider’s website as a “NEW Baby Gender Mentor Home DNA Gender Testing Kit”—is presumably based upon identifying a Y-chromosome in fetal-specific DNA obtained from a few dried drops of mother’s blood. If there’s a Y, the baby’s a boy; if there’s no Y, the baby’s a girl; if you’ve told them ahead of time you’re expecting twins, they can tell you whether you have one baby of each sex. The other possible options are not described in the publicity.

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Supportive clinical trials

I'm reading a book at the moment called Beyond Genetics--it attracted my eye in my pile of "I want to read these someday" books surrounding my overfull bookcase. The author suggests that companies offer genetic tests online to boost their numbers of tests, so that eventually their promise that the test actually tests for gene X might be more accurate. Patents run out so rapidly that there's rarely time to get the necessary number of tests done in time--so, offer the test online and get more "patients" in your studies.

Of course, the studies are not controlled (no matching randomized group of people, no physical exams and  blood chemistry, etc.). As I was explaining this idea to a friend, it struck me that these "supportive" clinical trials like the data that pharmaceutical companies collect after a drug is approved for marketing.

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