Talk

Great news for all you colon cancer screening fans!

Guest blogger and genetic counselor Andi Ybarra, MS, CGC tells us all about it:

We know that colorectal cancer is the second leading cause of cancer-related deaths in the United States. We also know that when it’s caught early, it’s curable up to 95% of the time. So why aren’t we catching it early?  It turns out that at least 60% of Americans age 50 and older have never been screened for colorectal cancer, even though the American Cancer Society (ACS) recommends lifelong screening, including a colonoscopy every 10 years.

In the last few weeks, results of a federal study showed that a virtual colonoscopy, an X-ray of the colon, is similar in its effectiveness to traditional colonoscopies at screening for colon cancer.  This is great news—no one looks forward to turning 50 so they can begin having colonoscopies. However, virtual colonoscopy still requires people to clean out their bowels, and exposes them to considerable radiation. So, while it’s less invasive than a colonoscopy, for many it can be inconvenient and anxiety-inducing.

At DNA Direct, we think people need better choices. We’ve found that some people are embarrassed or unwilling to undergo invasive screening—and some would rather go without. Updated ACS guidelines in March of 2008 added both virtual colonoscopy and stool DNA testing to the recommended arsenal of screenings for colon cancer. We thought about how we could help people who know the importance of screening and early detection, but who can’t or won’t undergo colonoscopy.

DNA Direct will now offer the ColoSure™ colon cancer screening assay, a state-of-the-art, safe, simple, and convenient at-home test, through our website. A study published in the September 2008 American Journal of Gastroenterology shows that ColoSure is superior to first-generation stool tests, demonstrating both higher specificity (83%) and sensitivity (77%) with simple collection – in your home, at your convenience.  Who knew we’d be so excited about a test that requires collection in our bathrooms?

DNA Direct delivers test results via our web-enabled reports, complete with next steps, a physician’s letter and a full lab report. We think ColoSure is a great example of genetic testing that makes a real difference in healthcare decisions today—allowing people who might be anxious or fearful about invasive screenings to take steps to detect colorectal cancer in its earliest stages.

ColoSure is meant for people at average-risk for colorectal cancer and is among the most sensitive, non-invasive colorectal cancer screening tools available to detect colorectal cancer at any stage at any location in the colon.  Are you over 50?  Well, what are you waiting for?

A recent editorial in the Washington Post, “Trig’s Breakthrough,” has caused a lot of discussion in the genetic counseling community. It uses Sarah Palin’s youngest child’s entry on the political stage as a platform to address genetic testing. Roxanne Ruzicka, a genetic counselor in Los Angeles and consultant to DNA Direct, sent a thoughtful commentary to the National Society of Genetic Counselors listserv. So, I asked if she would be interested in writing a guest post for this blog.

Guest Post by Roxanne Maas, MS, CGC:

As a genetic counselor, I feel compelled to comment on “Trig’s Breakthrough,” an editorial that appeared on the WashingtonPost.com website on Sept. 10, 2008.  The editorial, by Michael Gerson, contained disappointing and disturbing inaccuracies about the role of genetic counselors and the purpose of prenatal screening for Down syndrome.  His misinterpretation of the goal of genetics professionals’ work feels like a stab in the heart; I chose this career to support and assist people who have or are at risk for genetic conditions, not to try to eradicate them from the world.

I take issue primarily with three main points Mr. Gerson made:

1. Mr. Gerson stated “Last year the American College of Obstetricians and Gynecologists recommended universal, early testing for Down syndrome — not just for older pregnant women.”

This is false.  ACOG recommended that all pregnant women be OFFERED prenatal screening, which is for a variety of conditions, not only Down syndrome.  Women have every right to decline prenatal screening, and some do.  However, those that have prenatal screening usually find out that their baby has a very low chance for a severe problem.  Then the screening results provide reassurance and lead most women NOT to undergo prenatal testing, such as amniocentesis.  Women who receive a positive screening test result then undergo genetic counseling to discuss the implications of the results.  Some opt for diagnostic prenatal testing and some do not.  Any and all testing is entirely the choice of each woman and the genetic counselor’s role is to help the patient understand the tests and make their own decision about which tests, if any, to have.

2. Mr. Gerson stated that “When Down syndrome is detected through testing, many parents report that genetic counselors and physicians emphasize the difficulties of raising a child with a disability and urge abortion.”

I cannot speak to what some physicians tell patients, but genetic counselors always strive to present a balanced view of the positive and negative aspects of any genetic condition.  We have extensive training in non-directiveness and our goal is to enable each patient to make the decision that is best for them, in light of their beliefs and circumstances, not to push for “eugenic abortion.”

3. Mr. Gerson also stated “If traditional Democratic ideology means anything, it is the assertion that America is a single moral community that includes everyone. How can this vision possibly be reconciled with the elimination of children with Down syndrome from American society?”

First, in my 12 years working in the medical field, I have not met a single person who is trying to “[eliminate] children with Down syndrome from American society.”  As I stated above, genetic counselors and all of the other medical professionals I have met strive solely to enable their clients to make the best decisions for themselves, not to promote a personal agenda or rid the world of people with disabilities.

Second, a community that includes everyone by definition includes those that would choose to continue a pregnancy with Down syndrome or another genetic condition and those that would choose not to.  Such a community would not shun and berate individuals who, for any of myriad reasons, wish not to live through several more months of a pregnancy that has been diagnosed with a genetic condition or commit themselves to a life caring for a child they feel they will not be able to handle.  At the same time, such a community should fully support those that elect to follow through with any pregnancy.

In a tolerant society, people of all beliefs and people who would make different decisions can live together and respect each other, even if they would not make the same decision.  You may never be able to truly walk a mile in someone else’s shoes to fully understand their motivations and decisions, but you can respect them.

Roxanne Maas, M.S., CGC
Los Angeles, CA

• National Society of Genetic Counselors

And speaking of personalized medicine and genetic testing for drug response…

The FDA recently recommended that people have genetic testing for HLA-B*5701 before taking the AIDS drug, abacavir (brand-name Ziagen). This test can identify people who carry a genetic marker that is associated with life-threatening hypersensitivity reactions.

Right now, abacavir hypersensitivity reaction occurs in around 8% of patients, and shows up within the first six weeks of therapy.

“The guideline change represents one of the first situations in which a genetic test has been recommended for use in clinical practice to guide drug selection that will affect treatment decisions for thousands of patients each year,” says Dr. Bruce R. Schackman, associate professor of public health and chief of the Division of Health Policy in the Department of Public Health at Weill Cornell Medical College. Dr. Shackman is the lead author of a new study that evaluated the cost-effectiveness of genetic testing for abacavir hypersensitivity.

Abacavir is often used in “cocktails” with other antiretrovirals, including Epzicom and Trizivir.

From FDA’s materials for healthcare professionals:

Information for Patients to Consider if they are taking Abacavir:

• Some people are at greater risk for serious allergic reactions when first starting treatment with abacavir or with medications containing abacavir in a combination medicine. We can test for a risk factor for such reactions, which is called HLA-B*5701, before giving abacavir. Tests for HLA-B*5701 are readily available.
• If you test positive for HLA-B*5701, then your doctor will take that into account for your medical care.
• If you test negative for HLA-B*5701, you are at lower risk of a serious allergic reaction when taking abacavir, but it could still occur, and you still should be watchful.
• Even if you have previously taken abacavir without a reaction before but have never been tested for HLA-B*5701, you should still be tested before taking abacavir again.
• If you and your doctor decide that the benefits of starting abacavir outweigh possible risks, then you should watch for any sign described on the warning card. Abacavir HSR may include a combination of the following symptoms: fever, rash, generally ill feeling, extreme tiredness or achiness, gastrointestinal symptoms (nausea, vomiting, diarrhea or stomach pain), and respiratory symptoms (shortness of breath, cough or sore throat). If you develop a combination of any of the symptoms or signs of a reaction that are listed above, then you should contact your doctor immediately.

According to statistics from the Centers for Disease Control and Research, there are 233,079 HIV-infected people in the U.S., and 448,871 people were living with AIDS at the end of 2006. Between 5% and 8% of HIV-infected patients are positive for HLA-B*5701.

• To see the full FDA Label for Abacavir and other info from FDA for medical professionals: go to this page and click on the second link, “Prescribing (Label) Information from Drugs@FDA”
• If you are looking for HLA-B*5701 testing, DNA Direct can coordinate testing for you and your doctor: call our Clinical Services Department at 1-877-646-0222 or email expert@dnadirect.com.

Last week, NPR’s “Morning Edition” did a story on the way companies and entrepreneurs are beginning to develop and market products tailored to the genetic makeup of individual patients.

Notably, the story featured Iverson Genetic Diagnostics and their test for warfarin sensitivity. Warfarin (brand-name Coumadin®) is a commonly used blood-thinner, but doctors often have a hard time finding the right dose for patients. Too little and it’s not effective. Too much and it can cause dangerous bleeds. As Trish wrote in the previous post, last year FDA updated the label on warfarin to recommend genetic testing to determine the appropriate dosage.

Iverson Genetic Diagnostics, is one of DNA Direct’s partners. Iverson offers physicians DNA Direct’s customized, Web-enabled tool for physicians. This tool gives doctors who are testing their patients for warfarin sensitivity, DNA Direct’s Personalized Reports for their patients. These reports explains patients’ test results in a clear, plain, interactive format. They are personalized to each patient’s actual test results, and explain what the results mean in terms of warfarin dosing, They also describe how genes affect drug response, and outline the most appropriate next steps.

In addition, doctors can download a copy of their patient’s lab report and a clinical summary letter. In turn, patients may return to their online report at a later date to determine how their “metabolism status” may impact drug response for other medications.

”Morning Edition” note that that genetic testing is on the rise for response to drugs that treat diseases like cancer and AIDS. Experts say that genetic testing holds tremendous promise to improve healthcare—and accordingly, the space is filling with entrepreneurs such that the $2 billion DNA testing industry poised to grow from to $15 billion in the next ten years.

At DNA Direct, we believe this growth reflects continued progress toward a truly personalized approach to medicine, and we were pleased to see warfarin testing—an important tool to properly determine treatment—and Iverson highlighted as a bellwether in the field.

Guest post from Trisha Brown, MS, CGC, DNA Direct’s VP of Clinical Affairs:

FDA announced last year that the agency would update the label for the blood thinner warfarin to note that patients’ genetic makeup could strongly influence their response to the drug. Too high a dose of warfarin, and patients may experience uncontrolled bleeding—which can be fatal; too low, and patients risk developing life-threatening blood clots. Correct dosing is imperative for administering warfarin, which is the second most common drug, after insulin, implicated in emergency room visits for adverse drug events (1).

Now, the question is whether Medicare should cover the cost of genetic testing to identify the two genes that can affect patients’ reactions to warfarin. The outcome will be momentous and far-reaching: whatever the verdict from the Centers for Medicare & Medicaid Services (CMS), major private insurance companies are likely to follow suit. This week, CMS called for public comment on their decision.

Since FDA’s labeling change, there has been some debate among experts on using genotyping to prevent a significant number of adverse reactions to warfarin, or simply following the patient’s progress using a lab test that checks on how well the blood is clotting, called an INR (international normalized ratio) and adjusting accordingly. The latter view comes largely from thought leaders who work in major medical centers with distinct advantages: physicians can develop best practices; can use a single lab to assess the INR; and effectively communicate dosing changes and recommendations across a single healthcare team. Read the rest of this entry »

We are very pleased to see that Navigenics and 23andMe have reached a resolution with the State of California that allows their businesses to move forward with clarity offering their personal genome services to California residents.

It’s great news for all– for consumers, the industry, and best of all– for innovation.

It’s official: DNA Direct has received a formal letter from the California Department of Public Health (CDPH) stating that we are operating in compliance with state laboratory law. Specifically, the letter states that DNA Direct’s tests are performed only with a physician order and are conducted at licensed laboratories, and that DNA Direct gives validated interpretations of results directly to persons ordering the tests and provides publicly available education material to the person ordering the test to aid in his or her understanding.

“The CDPH has taken a proactive and decisive approach to the regulation of genetic testing with the public’s safety and concerns top of mind,” says Ryan Phelan, DNA Direct’s founder and CEO. “This communication from the CDPH enables us to reassure California residents that DNA Direct continues to operate within the appropriate regulatory framework and that consumers can depend upon us for convenient, secure and clinically-valid personal genetic information and testing services.”

(I might also add that DNA Direct was the first company to create transparent standards for web-enabled genetic services that follow medical guidelines from the National Society of Genetic Counselors and the American College of Medical Genetics for applicable tests.)

• See the letter confirming compliance from the CDPH
• See NSGC and ACMG Guidelines and Our Standards

The California State Department of Health announced on Friday, June 13, 2008 that they have sent out cease & desist letters to 13 companies that offer consumer access to genetic tests, requiring that the companies not offer genetic tests via the Internet to California residents.

This is major news in the world of direct-to-consumer genetic testing. It requires a somewhat formal statement from DNA Direct. Here it is, from Ryan Phelan, CEO of DNA Direct:

DNA Direct has not received a cease & desist letter from the California State Department of Health. And DNA Direct has no reason to expect to receive any such letter. Our company fully complies with all applicable state and national regulations for genetic information services, including facilitating genetic test requests.

The California State Department of Health has outlined five criteria for direct-to-consumer genetic testing companies:

1. Is there a California Licensed Physician involved?
2. Are tests being authorized by a California Licensed Physician?
3. Does testing include pre- and post- test counseling?
4. Are tests being conducted at CLIA Certified labs?
5. Are the tests validated?

DNA Direct not only meets all five of these criteria, but it has set the industry standard for responsible delivery of genetic testing services. In 2005, DNA Direct was the first company to create transparent standards for web-enabled genetic services, which meet and exceed the consumer guidelines recently released by the National Society of Genetic Counselors and the American College of Medical Genetics.DNA Direct continues to set the industry standard by providing pre-test information and consultation, informed consent, and case review and test authorization by an M.D. medical geneticist. The company provides access to validated tests in CLIA-certified labs, post-test consultation and an in-depth, personalized report. Every report contains an individualized and detailed review of the test result, the relevant genetic disorder, and next steps, as well as a clinical summary for the individual’s primary healthcare provider, along with guidelines on how to share relevant results with family members.

DNA Direct remains committed to bringing responsible genetic testing and information services to the public.

-Ryan Phelan, CEO
DNA Direct

Guest post from Lisa Kessler, DNA Direct’s Senior Genetic Counselor:

A recent article in the New York Times about red flags for hereditary cancer went into detail about specific findings in families. About 5-10% of cancers are thought to be strongly hereditary; for people who worry about their genetic risk, and who have a family history consistent with a hereditary cancer syndrome, genetic counseling and genetic testing can be extremely useful for decisions about personal and family health.

The article emphasizes the need for “intensive professional counseling” for individuals and families concerned about hereditary cancer risk, and I agree completely. I believe that genetic counseling helps people understand whether testing is medically indicated—and why, learn the benefits and limitations of testing, and understand why a certain family member might be the most informative person to test.

At DNA Direct, genetic counseling is required for people considering testing, both before and after hereditary cancer testing. Our counseling model provides people with an opportunity to learn about the testing to determine if it’s right for them — and for their families.

Most people aren’t familiar with the type of information discussed in a genetic counseling session. At DNA Direct, a pre-test genetic counseling session for someone considering BRCA1 and BRCA2 testing (genes for hereditary breast and ovarian cancer risk) includes, but is not limited to:

• discussion of personal medical history related to cancer
• drawing and interpretation of a 3-generation family health history diagram
• discussion of who in the family is the most appropriate member to test first
• background information about genes, chromosomes, and inheritance
• specific cancer risks associated with having a BRCA1/2 mutation
• options for cancer screening and prevention for people at high risk
• discussion of the benefits and limitations of BRCA testing, including psychological impact
• understanding the possible results of testing

If people proceed with testing through DNA Direct, a board-certified genetic counselor discloses the test results over the telephone. Then, clients can access a detailed, 5-chapter Personalized Report that reviews much of the information discussed during the pre- and post-test consultations. Because people often have questions after receiving their results, our genetic counselors are available to answer questions or simply for support, for all who test with us.

Not all patients can see a genetic counselor in person. Providing counseling by telephone gives us at DNA Direct the chance to increase access to genetic services in a responsible way, with a focus on ensuring reliable, easy-to-understand and informative results.

Lisa Kessler, MS, CGC
Senior Genetic Counselor

Guest post from Ryan Phelan, DNA Direct’s CEO and founder:

With President Bush signing the Genetic Information Nondiscrimination Act (GINA) into law today, this marks the first civil rights legislation to pass in the 21st century!

From the time I started DNA Direct, we have had people seek us out to order genetic testing because of their concern with privacy issues around genetic testing. I’m reminded in particular of a young woman who chose to test with DNA Direct because of her significant family history of a blood clotting disorder, and yet did not want this type of personal medical history in her medical record. When she tested positive with us for a blood clotting disorder, we encouraged her to talk with her personal physician (as we do with all our customers) and it saddened and concerned me that she felt so fearful to do so. I am pleased to say that once GINA has been put into effect (approximately 1 year), this woman and others like her will be able to feel much more secure that their genetic information will not be used against them to deny them health insurance.

This legislation, more than a decade in the making, prohibits group health plans and health insurers from denying coverage to a healthy individual, or charging that person higher premiums, based on a genetic predisposition to developing a disease in the future. GINA also bars employers from using individuals’ genetic information when making hiring, firing, job placement, or promotion decisions.

While GINA doesn’t address medical privacy across the board, it does represent an important step forward for the cutting-edge field of molecular diagnostics and the promise of personalized medicine.

At DNA Direct, we believe GINA will create better protection for consumers, generate more awareness around the benefits of genetic testing, and therefore increase overall access to testing for everyone. We’re looking forward to seeing important developments in personalized medicine that will doubtless follow this important event!

Hats off to our friends at the Genetic Alliance who worked so hard to push GINA forward and to the countless other advocacy organizations and industry leaders who helped bring awareness and support for GINA.

Ryan Phelan
Founder & CEO
DNA Direct

Marfan syndrome has been in the news a bit recently (”Old Drug Offers New Hope for Marfan Syndrome“). Perhaps not coincidentally over at MedHelp’s Genetics Forum, our senior Genetic Counselor Lisa Kessler has received a few questions about Marfan syndrome.

Marfan syndrome is an inherited disorder that affects the connective tissues, which hold the body together and are involved in growth. Marfan syndrome can also affect the heart and blood vessels, bones, cartilege and ligaments, eyes, lungs, and skin. According to Janis Cortese, it’s also “a big pain in the ass.”

Named after Antoine Marfan, the French pediatrician who first described the condition in 1896, Marfan syndrome affects an estimated 1 in 5000 people. It is inherited in a dominant manner: if one parent has Marfan syndrome, each child has a 1 in 2 (or 50%) chance of inheriting it, too.

With today’s early diagnosis and better medical and surgical treatments, people with Marfan syndrome are living longer and healthier lives, with fewer and less severe complications. Interestingly, along with longer life spans come new issues of aging with this chronic and progressive condition.

• Video: Dr. Nancy Snyderman spotlights the life of a girl on The Today Show, “Understanding Marfan Syndrome”
• Resource: National Marfan Foundation
• Read More: Practical and detailed info about life and issues surrounding Marfan Syndrome

* Interesting note: Clinical discoveries take time. They don’t happen overnight. On May 8, NPR reported on the promise of the blood pressure drug, Losartan to treat Marfan syndrome, spotlighting a boy named Blake Althaus. Two years earlier, in April 2006, NPR reported on promising mouse research, which led the way for human clinical trial later that year that Blake is participating in. At that time, Dr. Hal Dietz of Johns Hopkins said, “The effect in the mice was so dramatic that it’s led to some degree of optimism that this will translate to people.” Today, Dietz “cautions patients that the drug might not work for everyone and that he doesn’t think it will fix everything. But at the same time, things look promising…. He tells his patients that the trial is the only way they can really see what the drug does, find the right dose and identify any side effects.”

This is a guest blog post from our VP of Clinical Affairs, Trisha Brown:

The healthcare system is evolving as individuals begin to step outside of their local, or traditional, healthcare resources to find what they’re looking for. This is well-illustrated by the medical genetic testing industry, where there is a growing trend in direct-to-consumer (DTC) marketing. In response, the regulatory environment is scrutinizing the entire industry and how each company interacts with individuals.

I recently spoke on this topic at the Dark Report-sponsored Executive War College on Laboratory and Pathology Management held in Miami (where it was slightly cooler than San Francisco for a change). The audience was made up of about 650 C-suite executives and directors of clinical labs — from the big names to small pathology labs and hospitals. A major theme at the conference was that the ability to compete in the lab testing space is not about the testing itself anymore, but rather service, service, service. Labs are concerned with everything from customer phone service to how they partner with physicians to enable them to do their jobs better by providing information and effective results reporting.

I opened the second day of the conference with a presentation on the virtual medical genetic testing landscape and how it has become a DTC trend, with multiple companies offering a range of services, often at the click of a button. The regulatory scrutiny that is growing along with the industry is important because the heightened scrutiny will extend to all of the clinical laboratories — as the Secretary’s Advisory Committee on Genetics, Health and Society put it, it is becoming “increasingly difficult to distinguish genetic testing from other complex laboratory testing.”

There is also a tendency to lump all of the companies, including DNA Direct, together into one big DTC bundle, which is inaccurate given the varying service offerings. DNA Direct, for example, is committed to assessing individuals pre-test to ensure the right people get the right test at the right time. We’re also the first and only company to create transparent standards and guidelines for web-enabled services and we follow the standard medical guidelines for applicable tests; this is appealing to individuals looking for a reliable and medically sound testing experience.

I gave the example of a young Ashkenazi Jewish couple who visited their doctor to discuss carrier screening prior to their honeymoon. Unfortunately, their insurance wouldn’t cover the tests since they weren’t currently pregnant, and the cost was going to be $4,000. The couple decided to go shopping online and came to DNA Direct, where the couple was counseled to test one person at a time to eliminate unnecessary tests and costs. The groom-to-be took the bundle of tests, at a cost of $1,200, and only tested positive for the enzyme associated with Tay-Sachs. Thus his fiancée needed one $300 test to confirm whether they were at risk for offspring with any relevant diseases. This is a nice example of how individuals are taking control of their own healthcare. The opportunity for individual labs, of course, is to better educate physicians on selective testing in order to avoid costly, extraneous tests.

This is DNA Direct’s philosophy — our genetic testing tools and services empower individuals and physicians by providing guidance fortesting and context around results. We also host a number of services for labs who are trying to enhance their pre- and post-analytical solutions for physicians, so they can improve their service and keep up with healthcare innovation.

Happy DNA Day, everybody! Today is great opportunity to celebrate DNA — whether you’re a student, an expert, a science lover or a novice. So put on your DNA t-shirts, get out there and hug a helix. (I’d love be a grown-up kid at Dr. Barry Star’s events at the Tech Museum of Innovation today, but alas, my DNA (Direct) work calls.) Send a DNA Card to a friend. Solve a DNA crossword puzzle. Get the kids together for few cool activities you can do at home. Join the chat at Genome.gov, where students from all over the nation pose questions to National Genome Research Institute experts.

Bottom line: without DNA, where would we be? Learn a little more about yours today!

Congratulations to Amy Harmon who just received a Pulitzer Prize for her series, The DNA Age. Her series, with articles and videos, “explores the benefits and burdens of genetic information as it filters out of scientific laboratories into everyday life.” It’s fantastic reading for anyone interested in what DNA means to you and me, today, and most likely tomorrow.

I’ve posted on many articles from The DNA Age here at DNA Direct Talk. Here’s a sampling:

• Insurance Fears and DNA Tests
  
• A personal story of Huntington disease
• Ancestry, race and DNA
  

Yet again, I’m frustrated by people confusing web access to genetic services with “direct-to-consumer” testing. Today in Science, Katsanis et al. lump DNA Direct’s gold standard services with what journalists at Newsweek are calling “snake oil.”

Contrary to the article published in Science that is being quoted in other news sources, DNA Direct is a healthcare provider just like any bricks-and-mortar genetics center. We provide medical genetic services according to evidence-based guidelines, under the oversight of a Medical Director who is an M.D. geneticist, and with a focus on proper interpretation of test results.

As a clinical provider committed to helping consumers understand genetic test results in context, it is inaccurate to describe our company as “bypassing doctors, who could help consumers interpret and use the findings.” In fact, we routinely work with physician practices to help both the referring physician and their patient access genetic testing and appropriately interpret the results.

You can read DNA Direct’s official reply to Science here, along with more info on our standards and how we meet professional guidelines.

It is my hope that this article by Katsanis et al. will fuel a debate, regardless of misinformation, prejudice or fear-mongering, that will help this industry rapidly mature. Debate can speed action and provide innovative solutions. As an insider commented, “We NEED articles like this—even if the perspective is one we do not share—because the market needs the acceleration and heat of debate.”

For more statistics about genetic testing for drug metabolism, which was the target of this article in Science, see Eye on DNA’s post and the Personalized Medicine Blog’s response.

Update 4/7: The Genetic Genealogist has a good round-up of news coverage and blog posts on this article.  He says, “…my biggest complaint with many of these articles (especially in the popular media) is that they tend to lump together every test that examines DNA. There are different types of genetic testing with different levels of quality control, interpretation, etc. The results, scientific background, and effects of tests offered by large-scale genome scanning companies, clinical entities, direct-to-consumer companies, and pharmacogenetic companies are not the same. When dealing with a readership that does not have a background in genetics (which is probably 99% of the readership), the media should take extra care to note these differences.”

Welcome to another edition of Gene Genie. With Craig Venter and 23andMe and decodeME all over the news, I thought this edition might be appropriately focused on genes and “me.” What does the gene genie have to say about us?

The Basics

Since so many readers of my blog are not scientists, medical professionals, or genetics geeks, let’s start with “It’s All in your Genes, Part 1” a video of Bill Nye the Science Guy courtesy of Grrl Scientist. Science teachers, raise your hand: How many of you will be showing this to your classes on National DNA Day?

What Genomics Means to You and Me

That’s the 24-hour question, isn’t it? As always, Hsien manages to provide useful, interesting info for the curious as well as the scientist, with tongue still planted firmly in cheek: DNA Testing Can Ruin Your Life Forever.

Over at Scienceroll, Berci created a Demo Account at 23andMe. He kindly walks us through the demo genes of the fictitious Mendel family and gives us all a closer perspective on the 23andMe genome-wide array test and services. Read the rest of this entry »

Yes, that’s the sound of champagne corks flying at DNA Direct. We’re happy to announce our next round of funding. Our newest investor, Lemhi Ventures, is focused on growing businesses that target disruptive changes in health care, to improve quality and value for consumers.

How does DNA Direct provide solutions to disruptive change? Personalized medicine, coming to you online, over the phone, at home, in your doctor’s office, and through your labs. We’re focused on making the connections between patients, physicians and institutions — closing the loop, so to speak, or addressing the gap — so that the potential of medical genetics to affect people’s healthcare and change people’s lives is realized.

Here’s the official press release: Read the rest of this entry »

Amy Harmon looks at the issue of privacy, fear of discrimination, and the very real repercussions some people are facing as a result of the tension between important medical information and lack of comprehensive legislation to protect patients’ genetic privacy.

She quotes Francis Collins, director of the National Human Genome Research Institute at the NIH, “It’s pretty clear that the public is afraid of taking advantage of genetic testing. If that continues, the future of medicine that we would all like to see happen stands the chance of being dead on arrival.”

I don’t think it’s as dire as that, but all of us — patients, physicians, industry and thought leaders — need to push for systemic solutions. Genetic testing is redefining the practice of medicine, and our convoluted infrastructure of delivering healthcare needs to adjust to accommodate it.

Harmon’s profiles of people who have chosen to test, not to test, and to test anonymously by paying for testing themselves illustrate how this tension has a fundamental impact on peoples’ health and families’ lives: Read the rest of this entry »

Ethical Issues Surrounding Personal Health Records: Google Health and the Cleveland Clinic’s announced a partnership this week and everyone’s buzzing about privacy, portability, and all things Google. “HIPAA” has officially entered the public vernacular. David Hamilton outlines privacy and other ethical issues at Venture Beat. Steve Lohr adds more at his NYTimes blog, Bits. Betsy Schiffman at Wired’s blog is a bit more blase.

Paternity Testing: A simple test, a sensational tabloid topic, and sometimes a sticky wicket of ethical issues, too. Identigene is now offering a drugstore paternity test, which they claim may be used for legal purposes. But legally admissable test results require chain-of-custody documentation. I wonder how a drugstore kit will swing that? Many of us here at DNA Direct take issue with Identigene’s support (encouragement?) of gathering DNA samples without the tester’s knowledge and consent. On a different note, the Wall Street Journal mentions that 1 in 25 births is a non-paternal event. I’ve heard tell in some medical circles that the rate of non-paternal events is estimated to be as high as 1 in 10 births.

And speaking of paternity testing. And twins… Hsien Lei trumped my posts on twins (as always) with her discussion about a paternity suit involving identical twin brothers. She explains more about how there can be genetic differences between identical twins, who hatch from the same fertilized egg.

Right on the tails of my last post comes ground-breaking news about identical twins: they don’t actually have identical genetics! (Darn close, but not 100% identical.)

A study by University of Alabama, Birmingham researchers challenges the long-held belief that identical twins have identical genetics. They compared the DNA of sets of twins and discovered significant copy number variation (or CNV).

…[S]ubstantial chunks of DNA sequences were missing, doubled or reversed in one of the two twins. Having chunks of DNA sequences shifted around or missing is a common genetic mutation. When first discovered, scientists thought it was inconsequential. Often it is, but researchers are beginning to learn that sometimes CNV can be a major factor in developing a disease. Read the rest of this entry »

I’ve got twins on my mother’s side and twins on my father’s side, too. On my mother’s side, they seem to appear every other generation, so the joke among my cousins is “which one of us will have the twins?”

Whether twins really do run in families or whether this is an old wives’ tale is a question many people ask. Senior genetic counselor Lisa Kessler, just answered that over at MedHelp’s genetic forum, where she is the moderator.

She explains that having identical twins is not typically something that runs in families, butBirth control and family planning
Choosing a primary care provider
Ewing�s sarcoma
Family troubles - resources having fraternal twins does — and it happens more frequently after the second pregnancy. Interestingly, this only applies to a history of twins on the woman’s side of the family. A history of twins on the father’s side doesn’t increase the chance of having twins.

So now we know. And now it’s up to my cousins to pass on the family tradition of twins!

…and Frank Sinatra, and Bill Clinton, and (insert your favorite famous blue-eyed person here). The Danish geneticist, Hans Eiberg, who pioneered research into understanding the genetics of eye color, now traces all blue-eyed people back to a common ancestor who lived 6,000 to 10,000 years ago, perhaps around the Black Sea near the Ukraine or Turkey.

About 10 years ago, Eiberg discovered the gene OC2, which helps determine your eye color. Now he’s discovered a mutation that “switches off” this gene, ultimately resulting in blue eyes. Because the mutation is extremely specific, all people with blue eyes have the exact same genetic variation, and anyone with brown or green eyes do not. As a result, says Eiberg said, the mutation must have come from a single ancestor. “It’s not a guess,” he says. “It has to be.”

Read more on how eye color is determined (and check out photos of blue-eyed celebrities) at Spiegal International news: Read the rest of this entry »

The NY Times reported today about a genetic study that helps to confirm anthropological theories about the ancestral origins of the people living on the widely scattered Pacific Islands:

In an analysis of the DNA of 1,000 individuals from 41 Pacific populations, an international team of scientists found strong evidence showing that Polynesians and Micronesians in the central and eastern islands had almost no genetic relationship to Melanesians, in the western islands like Papua New Guinea and the Bismarck and Solomons archipelagos. …

The new genetic research, said Patrick V. Kirch, an anthropologist at the University of California, Berkeley, who is an authority on Pacific cultures, was “overwhelming biological evidence for a clear population movement out of Southeast Asia and Taiwan to Polynesia.” Read the rest of this entry »

Business Week’s Debate Room has just posted a debate on insurance coverage for genetic testing. Frankly, it’s not much of a debate. The pros for insurance coverage are presented by Dr. Philip Reilly, an accomplished geneticist and thought leader. He summarizes the current state and likely future of genetic testing. The cons are presented by Greg Fish, an IT business analyst, who offers the usual fear-mongering.

Of note, industry publication Health Plan Week (formerly Managed Care Weekly) just ran an article on exactly this: “Insurers Are Considering Change to Coverage for Genetic Testing and Related Patient Counseling Services.” At this point, coverage isn’t a matter of pro or con, it’s really a matter of which tests and for whom. Genetic testing is here, payers see the promise, and they’re trying to find the best strategies for coverage.

Genetic tests available in the market today fall into four categories, [says Drew Fromkin, CEO of Clinical Data, Inc.]: Read the rest of this entry »

Over at the medical genetics forum on MedHelp, senior genetics counselor Lisa Kessler responds to an inquiry about the inheritance patterns of ALS (amyotrophic lateral sclerosis), which is also known as Lou Gehrig’s disease. Many people assume serious conditions such as ALS are either hereditary or they are not. We are increasingly finding, however, that for many conditions — ALS being one of them — it’s not black and white. ALS is particularly interesting in that in can be inherited in different ways. Here’s how Lisa explains it:

Lisa’s answer: Approximately 10% of amyotrophic lateral sclerosis (ALS) cases are familial. As you know, ALS is a neurodegenerative disorder in which motor neurons (nerve cells that communicate to muscle cells) in the brain, brainstem, and spinal cord die. This causes paralysis and death. ALS usually begins in middle adult life, and the lifetime risk of developing ALS is 1 in 800. Read the rest of this entry »