Genomics DTC

"Consumer access to predictive testing is gated by primary care providers, who are expected to offer education, informed consent, interpretation of test results, genetic counseling, and follow-on care. There is increasing evidence that this channel is ineffective.

Few primary healthcare providers have the time or specialized training to provide interpretation or counseling. Many are uncomfortable providing such services. While there are specialists trained in genetics and genetic counseling, most are involved in prenatal diagnosis or treatment of genetic disease in children.

Managed care providers and payers have not invested in the resources necessary to deliver quality genetic services at the scale required to meet consumer demand. There is little economic incentive to offer predictive genetic testing given the near-term cost of tests and support services, consumer transience, and the long-term economic benefits that accrue from disease prevention. Moreover, disparities in access to healthcare and limited utilization of the health system for wellness in general, further limit consumer access to these products…

A DTC channel that provides consumers with direct, confidential access to genetic testing services could redress the limitations of the current system."

This from Fred Ledley and Harold Washburn in a December’s DTC Perspectives Magazine.  Fred Ledley, a medical doctor, is one of the few to address the challenges and opportunities of bringing genomics to consumers.  At a conference in Portugal in 2001, Ledley summarized these challenges and opportunities:

"I believe we are on the verge of an explosion of opportunity arising from genomics. The self-knowledge that comes from genetic testing will enable individuals to take control of their own health and make informed decisions about how to protect health and prevent disease. How will our healthcare system respond when consumers begin walking into doctor’s offices and saying "I would like to be tested for APOE", "I would like to be tested to see which drugs are safe".

Some applications of genomics will fit will into medical practice…Few physicians, however, are using genetics to identify predisposition to disease, to counsel patients in how to avoid environmental factors which may be particularly severe risks to that individual, or to choose drugs that are most likely to be safe and effective. There is little tradition of this type of practice within primary care. While the medical community may develop the capacity to deliver some of these services, I believe we will also see the emergence of new mechanisms which enable individuals to decide on their own what genetic tests would help them make decisions about health and wellness, pay for these tests themselves, and control the privacy of their own genetic information.

I believe that one of the most exciting frontiers in medicine is to understand how we will integrate genetic tests [involving] thirty, forty or a hundred thousand genes into clinical practice, how we will respond to consumer interest in genomics, and how we will use this information to achieve real improvements in personal health."

Fred Ledley and Harold Washburn. Can DTC Deliver the Health Benefits of Genomics to the Public? DTC Perspectives Magazine, December 2004.

Fred Ledley. The Future of Genomic Testing. Presentation in Apifarma, Portugal. November 2001. (.doc)

Here is a bio of Fred Ledley.

January 23, 2005 | Filed Under direct-to-consumerdtc, medicine | Comments Off 

DNA Direct Offers Genetic Testing Direct to Consumer

San Francisco based DNA Direct began offering genetic testing services direct to consumer (DTC) in early October.  You may remember that DNA Direct was introduced on this blog back in March, in reference to a New York Times article on DTC genetic testing.   

Currently DNA Direct offers genetic testing services for inherited blood clotting disorders and plans to offer testing services for other conditions in the future. 

Here is a summary of the testing process (see here), as outlined on their excellent webpage:  The decision to test is made by a medical consumer, perhaps with the aid of a risk assessment questionnaire offered free on their website.  A cheek swab kit is mailed to the person, swabbing ensues, and the kit is mailed to a lab for analysis.  A ten chapter personal report is made available via the web.  It contains the results of the test and descriptions of how to understand the results in relation to risks, lifestyle, family, and healthcare.  DNA Direct also provides genetic counseling services over the phone.

In a recent press release, CEO Ryan Phelan discusses her motivation for founding DNA Direct:

“At DNA Direct, we believe that testing is about empowerment - your body and your health are ultimately your responsibility, and your genes offer tremendous insight into personal, medical and lifestyle choices…Genes are a valuable part of the equation, and they must be interpreted in context and in privacy. We have set up a unique service that does just that – while providing individuals with knowledge and insight to take control of their personal health.”

—

DNA Direct

DNA Direct, "Lifestyle & Heredity: Genetic Test Helps Individuals Evaluate and Reduce Blood Clot Risk", Yahoo! Oct 13, 2004.

Naomi Freundlich, "Genetic Predictions: Just a Swab Away." NYT March 21, 2004.

GeneClinics: Factor V Leiden Thrombophilia

KU Medical Center: Factor V Leiden Thrombophilia

October 31, 2004 | Filed Under business, direct-to-consumerdtc, genetic-testing, medical-consumerism | 2 Comments 

Myriad DTC Genetics Marketing

Between September 2002 and February 2003 a genetic test was marketed direct-to-consumer (DTC) by Myriad Genetics, perhaps the first legitimate medical genetic test to go DTC.  The ad campaign by Myriad was for BRCAnalysis, a genetic test measuring risk for breast and ovarian cancer based on the presence/absence of mutations in specific genes.  The campaign aired in only two cities, Denver and Atlanta.

A recent Business Week article describes Myriad’s campaign as well as a follow-up study conducted by the CDC assessing it’s impact on consumer behavior in the test markets.  The CDC report provides the following summary of these results:

"consumer and provider awareness of BRCA1/2 testing increased in the pilot cities and… providers in these cities perceived an impact on their practice (e.g., more questions asked about testing, more BRCA1/2 tests requested, and more tests ordered)."

So far so good.  Then the authors of the CDC study continue:

"However, in all four cities, providers often lacked knowledge to advise patients about inherited BOC and testing. These findings underscore the need for evidence-based recommendations on appropriate use of genetic tests and education of providers and the public to achieve maximum individual and public health benefit from genetic testing."

Indeed, there are only about 400 genetic counselors in the U.S. that specialize in cancer genetic counseling.  A napkin sketch of the numbers…approx. 290 million U.S. population, 150 million female population, say 1% of the female population are candidates for genetic testing for breast cancer, then roughly 1.5 million women are potentially in need of genetic counseling at some point for this test.

How about virtual genetic counseling?  Probably not for everyone, but likely to get much much better (and much much more popular?).  A recent EurekaAlert public release describes a recent study of virtual genetic counseling for breast cancer:

An interactive computer program developed at Penn State College of Medicine is as effective as one-on-one genetic counseling for increasing knowledge of breast cancer and genetic testing among women at low risk for breast cancer…Counselors were, however, more effective than the computer program at reducing women’s anxiety and helping them to more clearly understand their risk.

"’These results suggest that the computer program has the potential to stand alone as an educational intervention for low-risk women, but should be used in combination with one-on-one genetic counseling for women at high risk,’ said Michael J. Green, M.D., M.S., associate professor of humanities and medicine, Penn State College of Medicine. ‘The computer program is an alternative means of communicating information about genetic testing and may help women without access to genetic counselors to decide whether or not to have genetic testing for susceptibility to breast cancer.’"

How will personal genomics change the nature of genetic testing?  Currently, a person may go to their doctor or genetic counselor to discuss the availability, accuracy, and helpfulness of genetic tests for a specific disease that is prevalent in their family.  This person may decide to go ahead with the test; a buccal swab is taken and sent to a lab; several weeks pass and the patient and doctor meet again to discuss the results.  In the future, a person might need only to jump online, access their genome (which is attached to their electronic medical record), and click-through a virtual test since the genome sequence is already known.  Educational materials and virtual counseling are available throughout this online experience.  For those who desire face-to-face counseling (including the possibility of video webchat), an appointment can be made online at any time.

References:
Amy Tsao. Genetic Testing Meet Mad Ave. Business Week.  July 28, 2004.

Jacobellis, J. et al. Genetic Testing for Breast and Ovarian Cancer Susceptibility: Evaluating Direct-to-Consumer Marketing — Atlanta, Denver, Raleigh-Durham, and Seattle, 2003.  MMWR weekly. 53(27):603-606 July 16, 2004.

The press release announcing the DTC campaing for BRCAnalysis by Myriad Genetics.

Press Release. Virtual counselor supplements traditional genetic counseling. EurekaAlert. July 27 2004.

Green MJ et al. Effect of a computer-based decision aid on knowledge, perceptions, and intentions about genetic testing for breast cancer susceptibility: a randomized controlled trial. JAMA 292(4):496-8.

Other Resources:
National Cancer Institute on Breast Cancer

National Cancer Institute on Ovarian Cancer

Myriad Genetics on Ovarian and Breast Cancer

 

August 10, 2004 | Filed Under business, direct-to-consumerdtc, genetic-testing, software | Comments Off 

Genetic screening for the benefits of exercise

An example of a genetic test intended to help medical consumers make lifestyle choices appears to have emerged.  According to this press release, BodyMedia has negotiated an exclusive license to genetic technologies based on research “investigating what a person’s genes say about how much their health can benefit from a moderate exercise program.”  This research has been led by Dr. James M. Hagberg of University of Maryland (nice biography here, scroll down; publications here).  Dr. Hagberg’s “team has identified genetic markers that predict particularly significant exercise benefits for patients with a variety of conditions, including high cholesterol, hypertension, diabetes, osteoporosis, and obesity.”  According to an article in the Pittsburgh Business Times, BodyMedia “will integrate the university’s genetics-based guidance with its health-monitoring products.”   

June 3, 2004 | Filed Under direct-to-consumerdtc, genetic-testing, medical-consumerism, personal-health-tech | Comments Off 

Personal Disease Risk: Breast Cancer

Patricia Reaney. Computer Program Evaluates Breast Cancer Risk. Yahoo News, March 22 2004.

Scientists have developed a computer program to evaluate a woman’s individual risk of developing breast cancer.

Charity Cancer Research UK said the IBIS risk evaluator uses information about a woman’s family history of the disease to determine whether she has a genetic propensity to develop it.

Other factors including age, height, weight, use of hormone replacement therapy (HRT) and whether a woman has had children are included to give a projected risk.

…"This tool will initially be available only to doctors. In the longer term we do see something that would potentially be available for the population at large," [Jack] Cuzick added in an interview.

The program gives a woman’s individual chance of suffering from breast cancer as a percentage along with the average risk. Patients with a high risk are given guidance and advice about weight loss, use of HRT and screening programs to detect earlier signs of the disease.

…Cuzick said IBIS is already used in hospitals in Britain, the United States and Australia and could be made more widely available soon.

There are also plans to use the program to evaluate the risk of other illnesses such as heart disease and different types of cancer.

"We see it as the first step toward a project providing information to both men and women of their risk of major diseases and what they might do," said Cuzick.

"Rather than having health education that is blanketed to everyone, this would be personal, individualized information as to what your personal risk factors are based on your personal history." (emphasis mine)

Jonathan Tyrer, Stephen W. Duffy, Jack Cuzick. A breast cancer prediction model incorporating familial and personal risk factors. Statistics in Medicine. Volume 23, Issue 7 , Pages 1111 - 1130. (Abstract or full text in pdf)

March 23, 2004 | Filed Under direct-to-consumerdtc, future-healthcare, preventiveprospective-medicine, software | Comments Off 

Consumer driven genetic testing

Naomi Freundlich. Genetic Predictions: Just a Swab Away. New York Times. March 21 2004.

"Genetic testing and counseling, of course, have been available for many years. Doctors may decide to screen patients for various genetic disorders, like Tay-Sachs disease, based on a family’s medical history. But Genelex’s drug metabolism test branches into something new: genetic tests initiated by the consumer. The medical profession is still divided, however, over whether such tests are always a healthy idea."

"The tests aim to capitalize on the desire to harness the vast amount of information emerging from the recently completed Human Genome Project. The project, publicly financed, has provided scientists with a list of the more than 30,000 human genes. Now the race is on to figure out how slight variations in these genes can affect an individual’s future health - how they might make people more prone to heart disease or cancer, for example. Preliminary data about such connections is building, and some companies have decided to act early and provide this kind of lifestyle risk information to curious consumers."

Read the whole article.

Several of the companies mentioned:
Genelex
Genova Diagnostics
DNA Direct, Inc.

March 20, 2004 | Filed Under direct-to-consumerdtc, genetic-testing, medical-consumerism | Comments Off 

← Previous Page