Talk

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. (more…)

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

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

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.

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: (more…)

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.

More thoughts on the genomic revolution, who’s involved, what we’re facing and where we’re going.

• U.S. population: 300+ M
• Board-certified physicans: 697,000
• In primary care: About 2 out 5
• M.D. geneticists: 1,178
• Ph.D. geneticists: ~800
• Genetic counselors: ~2,000

That’s about 3.5 geneticists per million population. In addition, MD clinical genetics training programs have had declining numbers of trainees, which means fewer geneticists in future years. The typical clinical geneticist works at an academic medical center, spends approximately 50% of her time in direct patient care, and provides approximately 700 total patient visits per year. 700 patients per 1200 MD geneticists = 840,000 patient per year. That’s today’s bottleneck.

Now, let’s look at the nature of the molecular diagnostics market: in 2005 it was a $6 billion market, of which genetic and pharmacogenetic testing was less than 1/3. In 2010, it’s estimated to be $15 billion, over half of which will be genetic and pharmacogenetic. In 2013, it’s estimated to be $32 billion. That’s big growth.

Where is this growth taking place? (more…)

Not surprisingly, the genomic revolution has a lot of medical professionals who aren’t geneticists* concerned about who’s doing what, and how. This is an important discussion that we should all be having, and it’s captured in what I hope will become a larger discussion begun at Grand Rounds, Volume 3, No 33 and Eye on DNA.

The Blog That Ate Manhattan writes:

Eye on DNA interviews the CEO of Genomic Healthcare Strategies, and gives us a glimpse at a possible future. I was fine till I read the list of new stakeholders in this area, and realized just how much of the trend in health care is to take it out of the hands of physicians and put in anywhere else it will make money in a direct-to-consumer market. I wonder where the ethics in this brave new world will come from?

Eye on DNA responds:

What I’d personally like to see is greater collaboration between physicians, genetic counselors, and patients aka consumers to define a personalized approach to preventing and treating disease. It doesn’t have to be one camp against another. And, in fact, if we persist in keeping secrets from our healthcare providers because we’re afraid of their disapproval or if physicians want to deny services to their patients simply because they are not the conduits, we will create an environment in which useful information is lost.

I would add: (more…)

Many people who call us about testing for genetic risks, such as thrombophilia testing, are concerned about genetic discrimination. As a result, they’re looking for ways to test anonymously and keep their test results off their medical record. How do you respond to such concerns?

I would first recommend that people become fully informed about the laws that are in place to prevent genetic discrimination. These include:

• The Health Insurance Portability and Accountability Act (HIPAA), which protects people with group health insurance from being denied insurance, having it cancelled, or having their individual rates increased based on genetic test results. HIPAA does have certain limitations, however. For example, it does not protect those who are individually insured. In addition, disability and life insurance may be impacted.

Because of the gaps in HIPAA, many states now have laws to provide additional protection. People can learn about their states’ laws on www.genome.gov. Most states have laws that:

• prevent insurers from requiring genetic tests
• prevent insurers from using genetic test results to make decisions about eligibility or rates
• apply to individual health plans as well as group health plans
• prevent disclosure of your genetic test results to third parties without your knowledge

There is also a push underway to expand federal legislation to include these elements. The Genetic Information Nondiscrimination Act (GINA) has already been unanimously approved and is undergoing debate in the House of Representatives. Approval of this law would provide expanded protection.

I find that once people understand these laws, many have less fear about testing. However, there are exceptions—including those that are individually insured. In these situations, one may consider testing anonymously, or paying for testing out of pocket, so that only he or she will have access to test results. I understand this in certain situations, but I always encourage people to think about the complexities that may arise. For example, if you find out you are positive, you may want your doctor to know, so that the best decisions about your health management can be made. If you are undergoing surgery, or are considering pregnancy for instance, it is important to let your doctor know your result, so that you can be treated accordingly. In these situations, the benefits of sharing your test result far outweigh risks of genetic discrimination, in my opinion.

On the other hand, some people may feel more comfortable testing anonymously. If they are negative (often a 50% chance), testing in this manner may provide tremendous piece of mind, and they can choose to share their negative result if they wish. Testing negative may also alleviate the need for others in the family to get tested (i.e. if there is thrombophilia in the family, but a parent tests negative, their children would not need screening (unless there is concern about thrombophilia on the other side of the family)).

In summary, individual decisions must be made when it comes to genetic testing It is important to remember that genetic tests can provide valuable and potentially life-saving information. The benefits of testing must be weighed against risks of genetic discrimination.

Liz Varga is a genetic counselor and expert on inherited blood clotting disorders. This is part II of an interview in honor of National DVT Awareness Month. Looking for more info on factor V Leiden, blood clotting disorders, or DVTs?

• Liz’ personal story and Lori’s personal story of discovering their genetic risk
• National Alliance for Thrombosis and Thrombophilia
  
• DNA Direct’s (confidential) genetic testing services for thrombophilia

Technorati Tags: genetic discrimination, genetic privacy, legislation, hipaa, gina, dvt awareness month, blood clotting disorders, thrombophilia, factor v leiden, elizabeth a. varga

Karen Rothenberg, currently dean of the University of Maryland School of Law, has “made something of a specialty of the intersection of medicine, science and the law,” In addition to being the founding director of the school’s Law and Health Care program, she had a big stint at the NIH. So, it’s not surprising that she testified last week before the House about the Genetic Information Non-Discrimination Act (GINA).

What she has to say is very thoughtful, as she’s been steeped in these issues longer than most (actively studying them for 13 years). The Baltimore Sun has an interview which everyone should read, no matter which side of GINA you fall on, and especially if you’re undecided: “All in the DNA: Q/A with Karen Rothenberg”

(more…)

Do I have a bee in my bonnet about the Genetic Information Non-Discrimination Act? Perhaps. But so does IBM.

Did you know that in 2005 IBM became the first major corporation in the world to establish a genetics privacy policy that prohibits current or prospective employees’ genetic information from being used in any employment decisions? I didn’t until today.

Today IBM’s Chief Privacy Officer, Harriet Pearson, will testify before congress about the importance of genetic non-discrimination.

Pearson, architect of IBM’s genetic non-discrimination policy, will testify, “The reasons for making genetic privacy part of our broader discrimination protections are clear to us: first, a person’s genetic profile or makeup should be treated the same as other innate human characteristics, including one’s race, gender, national origin, sexual orientation, age or physical abilities. Simply stated, a person’s genetic profile is as natural and as inseparable from who they are as any other physical trait or attribute.” (more…)

Who expected the President to get behind this ? Not I! But hey, he’s helped the issue garner headlines. (Let’s just hope his backing has a positive effect on Congress.)

“If a person is willing to share his or her genetic information, it is important that that information not be exploited in improper ways,” Mr. Bush said at the National Institutes of Health. “And Congress can pass good legislation to prevent that from happening.” He added, “We want medical research to go forward without an individual fearing personal discrimination.”

NY Times coverage

Technorati Tags: genetic discrimination, genetic privacy, legislation

Good news for everyone who’s been concerned about genetic information and privacy! The Genetic Information Nondiscrimination Act (GINA) will provide important protections against the misuse of genetic information. This is very important legislation. To ensure the passage of this legislation, GINA’s sponsors need support from the people it affects — us.

The Genetic Alliance is collecting letters of support to help build momentum in Congress. You can use one of their sample letters or draft your own. Then email, fax or mail your letter to the Genetic Alliance offices by January 22.

GINA’s sponsors in the House and Senate have been championing genetic nondiscrimination on the Hill for over a decade. So they really deserve a thank you, too.

Technorati Tags: genetic discrimination, legislation, gina, genetic alliance, genetic privacy

“Will insurance cover my genetic test?” is one of the most popular - perhaps the most popular - question we get at DNA Direct. For some genetic tests, the answer is pretty straightforward (”probably, here’s why…”). For other genetic tests, it’s more complicated.

Recently the magazine, Managed Care, ran a detailed article about exactly this issue. It begins with scenarios in which insurance company medical directors granted and denied coverage for genetic tests, and why:

• “It can’t be a fishing expedition.” Coverage denied for a handful of genetic tests.
• “This is the role genetic testing should play — when all else has been eliminated.” Coverage granted for Fragile X testing.

Of more interest to me is the detailed exploration, from the position of the insurance companies, how their policies and coverage is evolving in the face of cheaper genetic testing, patient fears of genetic discrimination, and the advent of personalized medicine.

Here’s one perspective, from an insurance company: (more…)

The only recent coverage I’ve seen so far about the FDA’s relabeling of tamoxifen on is from the PGx Reporter, which is subscription-only. Here’s their public excerpt:

FDA Panel Leans Toward Including CYP2D6
Dx in Tamoxifen Label, But is Split on Language

The Pharmaceutical Science Clinical Pharmacology Subcommittee was split over whether the label should “recommend” the genetic test or make it an “option” for health care providers and patients to discuss.

As it considers just how strong the wording on the label should be, the FDA is looking at the role of endoxifen (the active metabolite), 2D6, and drug interactions.

We’re getting many inquiries ourselves into the Tamoxifen 2D6 Test. Here are recently asked questions and answers, and previous posts on Tamoxifen and 2D6 Testing.

Technorati Tags: tamoxifen, cyp2d6, genes, drug metabolism, fda recommendation, drug interactions, genetic test, dna

As expected, the discussion about FDA regulation of genetic testing as a fallout of the GAO investigation is heating up. Today in “The Wide, Wide World of Genetic Testing“, Andrew Pollack summarizes the current landscape — who’s out there, why regulation is difficult, what proponents say, what critics say, what’s at issue.

He quotes Kathy Hudson (director of the Genetics & Public Policy Center at Johns Hopkins) as saying, “I think it’s impossible to discern which companies are reputable and which are reprehensible.” I disagree: I have every faith that consumers can be savvy about snake oil versus science. People making a significant purchase — and genetic tests aren’t cheap — do look for the details. (Just ask anyone who’s gone shopping online for a digital camera.) People making significant healthcare decisions do want, need and require context.

That said, at this time it is difficult to discern who is legit and who isn’t. There isn’t a seal of approval or certification for genetic testing companies. There isn’t one place, for example, that consumers can go to see if a company meets acceptable standards. As Pollack points out, current lab certification (CLIA) applies to whether the test is accurate (did it detect a gene?), not how it’s being sold (it can tell your fortune!).

As I said in an interview with Hsien Lei over at Genetics and Health, when she asked me about “your proactive approach to educating the public about genetic testing” and advice for other companies,

My advice? Transparency – it keeps you honest and it builds trust. Education – when you’re committed to educating others, you keep yourself up-to-date. Involvement – staying active in the community you serve keeps you compassionate. Lastly, never underestimate the intelligence of anyone seeking information. If they don’t understand, it’s simply because you haven’t found a way to explain it properly.

So you can be sure that those of us at DNA Direct will be actively engaged in regulation discussions. We want to bring access to testing, and figuring out the best way to do so is part of our mission.

Technorati Tags: genetic testing, regulation, legislation, fda, clia, guidelines, standards

Recently there’s been a flurry of discussion about direct-to-consumer genetic testing as a result of the GAO investigation into nutrigenetic testing and presentation to the Senate Committee on Aging a few weeks ago. Many articles have been positive about DNA Direct’s services while being critical of direct-to-consumer sales of genetic tests. Why is this?

I propose it’s because what we offer is really a virtual genetics clinic. We don’t simply sell tests directly to consumers. We strive to provide virtually the education, counseling, screening, and professional oversight that people receive in a physical setting. We use the same medical guidelines and so forth that genetics clinics use. And, we are actively engaged with the medical community and legislators to ensure that our standards raise the bar — and help establish it.

Over at Genes & Drugs, Dr. E offers his thoughts on our services in light of these issues, specifically as they are presented in last week’s New England Journal of Medicine.

Technorati Tags: genetic testing, direct to consumer, genetic counseling, GAO report

This morning I wanted to write about an article in Forbes by Peter Huber on diagnostic technology, FDA regulation and a patient’s right to know. But my colleague Jason beat me to it! So I suggest everyone go read his post: Private Little Revolutions.

Technorati Tags: diagnostic technology, privacy

I was in DC at the NIH this week and spoke in front of the Secretary’s Advisory Counsel on Genetics, Health, and Society (SACGHS) about direct-to-consumer genetic testing and DNA Direct. My goal was to make three main points:

1. There’s definitely a need for direct-to-consumer genetic testing.
2. Direct-to-consumer genetic testing can be done responsibly.
3. Currently, there’s a spectrum of companies that offer tests to consumers, and it’s important to distinguish the “good” and the “bad” so that consumers can make informed decisions.

The committee is a consortium of diverse experts in the field of genetics, from lab directors to researchers, physicians, ethicists, and advocacy organizations. This group formulates recommendations that Secretary Leavitt (Health and Human Services) will address with Congress. I was encouraged that some members of the advisory committee recognized that DNA Direct covers many of the issues raised in previous recommendations to the Secretary on direct-to-consumer genetic testing. They further expressed concern that efforts have not yet been made to distinguish direct-to-consumer companies.

Here’s my full presentation…

(more…)

There continues to be much debate in the genetics community about whether genetic discrimination exists. This week’s Grand Rounds spotlights a beautiful piece by Dr. Charles about a patient faced with a serious genetic risk for HNPCC (hereditary nonpolyposis colorectal cancer) and how he responded to her fears of discrimination. He writes,

“There are three things holding back discrimination. The first is the structure of American health care financing system in which only a minority of people are exposed to individual policy underwriting. Most Americans get their health insurance non-selectively through their employers, Medicare, or Medicaid. The second is a web of state laws that explicitly prohibit genetic discrimination in at least 30 states, and implicitly protect in all but three. Federal laws such as the Americans with Disabilities Act and the Employee Retirement Income Security Act have deterred employers and insurers from discriminating, although they have never been formally tested in the court system. The third is that most diseases result from multiple causative factors, chance, or do not stem from simple, easily identified genes with predictable inheritance.”

Whether or not genetic discrimination exists, many of us are concerned that the fear of discrimination is keeping people who could benefit from genetic testing away from testing. Dr. Charles’ patient is a perfect example: the increased surveillance her test results have warranted may mean the difference between a curable or terminal diagnosis.

Read more:

• Why genetic discrimination is not common, and thoughts from Genetics and Health
• Our long discussion of why genetic information is unique
• Human Genome Project: genetics privacy and legislation

Technorati Tags: genetic discrimination, genetic testing, HNPCC, hereditary nonpolyposis colorectal cancer, privacy, legislation, human genome project

If you were going to get a genetic test, what would be more important to you: Getting genetic testing paid for by your health insurance, or keeping the results of your test out of your medical record?

Technorati Tags: genetic testing, privacy, health insurance