Excerpt from GenomeWeb.com:
“A new national survey of 800 American voters conducted by the Biotechnology Industry Organization shows that a majority of people — 53 percent — want the federal government to financially support the biotechnology industry, a BIO press release says. Even in a time of economic hardship, the survey respondents said the government should financially support the industry — either through tax incentives or direct funding — in order to cure disease, produce alternative energy sources, and create abundant food sources, BIO says. ‘The survey found that the key biotechnology industry issues are ranked by voters as either extremely or very important — behind only the economy, education, reducing the deficit/government spending — and alongside of issues such as combating terrorism and reducing taxes,’ the press release adds.”
Click here to download the survey results (PDF).
Click here to read the BIO press release.
by Aditi Chawla
The sugar known as lactose is the main carbohydrate component of milk, which is the only food source for newborns. The enzyme lactase is found in the small intestine, and is responsible for cleaving lactose into glucose and galactose, which can be absorbed into the bloodstream and used as a source of energy. An estimated 65% of adults are lactase non-persistent (or lactose intolerant) and downregulate the production of intestinal lactase after weaning (PMID 19034520, PMID 14616060). In others, lactase activity persists throughout adult life. Those who are lactose persistent (or lactose tolerant) are able to drink milk without any of the side effects experienced by people who are lactose intolerant.
It is not surprising that lactose intolerance results in the avoidance of dairy products. The fermentation of undigested lactose by bacteria in the colon can cause diarrhea, abdominal pain, flatulence, bloating and cramps. It is thought that variation in the gut flora may account for some of the differences in symptoms between people (PMID 19034520).
by Dan Zhu
Common wisdom holds that a marathoner is unlikely to excel in a 100-meter race, and vice versa. While it is easy to imagine that genetic variation is a major source of such differences in athletic ability, identifying the actual genetic causes requires careful characterization of athletic traits and in-depth data analysis.
The ACE (angiotensin-converting enzyme) gene is one of the earliest and most widely studied genes in sports genetics (PMID 19696508). Everyone carries two copies of the ACE gene and each copy of it is either an I allele or a D allele. In the I (insertion) allele, there is an extra 287-base pair fragment of DNA that is absent in the D (deletion) allele.
Both alleles are common and each person has one of the three possible ACE genotypes — I/I, I/D or D/D.
A number of studies have found that the frequency of the I allele is higher in elite endurance athletes than in non-endurance athletes or non-athletes. For instance, in a study involving Caucasian athletes who completed either the 2000 or 2001 South African Ironman Triathlons, there was an excess of the I allele in the 100 fastest finishers as compared to the 100 slowest finishers or to non-athletic individuals (PMID 15292738). In another study of elite runners selected by the British Olympic Association as potential members of the national Olympic team, the I allele was present at a higher frequency in long-distance runners than in short-distance runners (PMID 10517757). Similar findings have also been reported in other sport disciplines, such as high-altitude mountaineering (PMID 18081503, PMID 9607758) and rowing (PMID 9737775).
by the Pathway Genomics Curation Team
How does Pathway identify the genetic markers to include in its tests?
Pathway employs an army of geneticists whose primary responsibility is to read genetic studies to identify reportable genotype-phenotype associations that can be added to Pathway’s tests. This curation process seeks rigorous scientific evidence that specific traits or conditions (phenotype) can be associated with specific changes in the DNA sequence of a gene (genotype).
You might have heard of museum curators, whose job it is to acquire artwork or historical items for museums. Genetics curators at Pathway have the job of acquiring genetic data from the available literature. The most widely used (and freely available) database of literature is PubMed, which is maintained by the National Library of Medicine. PubMed contains information on over 20 million studies, and is growing at an astonishing rate of 1 paper per minute. The curators spend hours poring over studies in PubMed and in other databases to identify new markers with high scientific validity that can be added to Pathway’s tests. For any phenotype (for example, satiety in Pathway Fit®, or warfarin sensitivity in our drug response test) that is reported, a curator may read between 3 to 50 scientific papers.
A commitment to high scientific validity
The curation team at Pathway establishes criteria for identifying genotype-phenotype associations that can be reported. For complex traits tested in Pathway Fit, drug response, and Health Insight, these criteria include study characteristics such as population size, statistical significance, and ethnicity. Many of these items are included in guidelines sponsored by the U.S. Centers for Disease Control (CDC) for strengthening the reporting of genetic prediction studies (PMID 21434890). For our Pre-Pregnancy Planning Insight™, we include mutations recommended for carrier status screening by the American College of Medical Genetics and the American College of Obstetricians and Gynecologists. For our drug response product, we look at recommendations for genetic testing that are approved by the Food and Drug Administration.
One universal criteria across all products is that the genotype-phenotype association must be found in human studies. Animal or in vitro studies are insufficient for reportability, although they may be additional support for a genotype-phenotype correlation found in humans.
by Emily Enns, M.S., Genetic Counselor
Genetic counselors can be great resources throughout the genetic testing process. In a series of blog posts in the upcoming months, we will explore the profession and its usefulness in the genetic testing process.
Multiple professional agencies, including the National Society of Genetic Counselors (NSGC) and the American College of Medical Genetics (ACMG) recommend that genetic testing should be pursued with the support of a knowledgeable professional, such as a genetic counselor, and it is understood that genetic counseling is an important and integral piece in the genetic testing process. It is easy to understand why, as genetic testing can quickly become complex, with some results leading to more questions than clear answers.
Genetic counselors are health professionals with specialized degrees in medical genetics and counseling. A genetic counselor goes through a two-year program to receive a master’s degree in genetic counseling. There are currently 31 schools in the United States and six schools internationally that offer a master’s degree in genetic counseling. The profession requires extensive knowledge of human genetics, disease and inheritance and the graduate coursework prepares students through classes in human genetics, biochemical genetics, cytogenetics, and counseling skills. In these classes, students learn the basic concepts and then have the opportunity for real-world application through clinical rotations where the student, under supervision, takes on responsibilities of a genetic counselor guides patients through the testing process. In addition to a master’s degree, genetic counselors can also take a competency test through the American Board of Genetic Counseling (ABGC) in order to become ABGC-certified. A genetic counselor may also be licensed by the state that they practice in.
The role and importance of genetic counselors are paramount for people who seek clear answers to their genetic test results. For more information and a better understanding of genetic counseling, we should refer to the NSGC, a professional organization for genetic counselors that has additional information and resources about genetic counseling. The NSGC defines genetic counseling as “the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease.” The process of genetic counseling includes analyzing the medical history of the individual or family, as well as helping people understand genetics, genetic testing and genetic diseases and facilitating discussions regarding testing, results and how the individual or family will use the results to make future decisions. In addition to being an information resource for patients, genetic counselors can also be a resource to health care practitioners who may consult with these individuals in a different capacity — to treat the disease.
Pathway recognizes the crucial role of genetic counselors. To this point, Pathway offers genetic counseling free of charge to health care practitioners and their patients at any time during the genetic testing process. All of Pathway’s genetic counselors are board-eligible or certified by the ABGC. If you are interested in speaking with one of Pathway’s genetic counselors, simply contact our genetic counseling department at (877) 505-7374, or send an email to counselors@pathway.com.
by Ed MacBean, Vice President, Pathway Genomics
Pathway Geno
mics presented this week at the Food and Drug Administration’s (FDA) two-day public meeting of the Molecular and Clinical Genetic Panel to discuss regulation of direct-to-consumer genetic testing. Even though Pathway is not currently offering its tests direct-to-consumer, we felt it was important to present our ideas for appropriate regulation that would support this emerging business model.
In many ways, this meeting seemed to be a microcosm of the experience of direct-to-customer genetic testing over the last few years. The first day of the meeting was dominated by impassioned speeches about the dangers, uncertainties, and questionable utility of DTC testing. The examples used were not representative of the approach by leading DTC companies, and the panel’s discussions seemed to get mired down in issues like definitions of terms, fears of remotely possible outcomes, inabilities for the public to cope with genetic information, and how significant a result has to be to have utility. Not surprisingly, the emerging consensus of the panel was that including a physician was required to mitigate all of these risks. Meanwhile, the arguments in favor of DTC as a health care model that would possibly improve personal engagement were falling on deaf ears. But, by the end of the second day, it felt like a more reasoned and balanced view of the risks and benefits of the field was beginning to emerge.
The first day of the meeting was dominated by impassioned speeches about the dangers, uncertainties, and questionable utility of DTC testing…But, by the end of the second day, it felt like a more reasoned and balanced view of the risks and benefits of the field was beginning to emerge.
I would love to say that we were responsible for the most important or influential presentation, but I think that recognition belongs to Mary Pendergast. Mary is now an independent consultant, but she served as Deputy Commissioner and Senior Advisor to the Food and Drug Administration, from November 1990 to January 1998. Her history at the FDA gave her a unique perspective, and her independence in this discussion allowed her to speak with an autonomy and freedom that many of the DTC advocates could not.
I would love to say that we were responsible for the most important or influential presentation, but I think that recognition belongs to Mary Pendergast.
She told me she had a prepared speech, but dumped it after the first day of the hearing, when the panel’s biases against direct-to-consumer testing and protection of the status quo were quite apparent. Mary called out the panel for continuing its history of paternalistic protectionism, ranging from shielding women from their own health in the 1960s to resisting home tests for pregnancy, glucose monitoring or HIV testing. She pointed out that the health professionals on the panel were true-to-type, that they have the same potential conflicts as DTC companies, and that their opposition can easily be interpreted as a desire to keep the fees for genetic testing and consultation in their own pockets, not a concern for the patient’s best interests. She also pointed out how the flawed GAO report led to much of the recent negative press and dogmatic views surrounding DTC genetic testing.
Mary got the only ovation at the hearing, and she deserved it.
As the hysteria of FDA concerns (of which Pathway Genomics continues to address) and Congressional hearings from the last year have settled, it seems that most are coming towards agreement on the need for a rational degree of regulation, and that same rationality was emerging by the end of the second day of the panel discussions. Dr Elizabeth Mansfield (Director for Personalized Medicine, Office of In Vitro Diagnostic Device Evaluation and Safety) presented a thorough summary of the history of direct-to-consumer genetic testing, during which she suggested that a risk-based approach towards regulation might allow some genetic tests to be sold DTC. On the first day, the panel was generally recommending against that, but I think Mary’s presentation jolted the committee out of a natural defense of the status quo and forced minds to open up a bit and consider the benefits and possibilities of emerging technologies and business models.
Overall, kudos go to FDA for calling this meeting and providing a venue for further discussion of the key issues relating to DTC genetic testing. There were several sessions in which FDA asked questions of the panel that showed thorough review and forethought of the issues. Further, FDA’s approach was to promote open discussion of the requirements that would be necessary for genetic tests to be sold DTC. Few, if any, DTC advocates are still making a call for no regulation, and I am optimistic that following this meeting, opponents are more informed about, aware of and open to the benefits of a DTC model that, with the proper degree of regulation and controls, can offer significant benefits that outweigh the risks.
by R.K. Chan
One of the prime reasons for justifying the massive international effort to determine the complete DNA sequence of a human being was the hope that knowledge of a person’s individual genetic composition would lead to a more individualized and effective approach to medicine. In the 10 years since the first complete human genomic DNA sequence was published, what progress has been made toward this goal of a personalized medicine based on a person’s genotype or genetic makeup?
An opportunity to assess this progress was provided by the recent “Future of Genomic Medicine IV” meeting in La Jolla, California, organized by the Scripps Translational Science Institute. To illustrate how the practice of medicine is or will be impacted by the application of genomic information, here are some highlights of the data that were presented at this year’s meeting.
In a previous blog, we discussed genetic variants in the CYP2C19 gene which affect the individual’s ability to metabolize the anti-platelet drug called clopidogrel (Plavix) to its active form. At the meeting, Dr. Matthew Price of Scripps Translational Science Institute and Scripps Clinic suggested the need for setting up a rapid point-of-care genotyping system for clopidogrel response testing for patients who have acute coronary disease that may require surgical intervention. He argued that there is a need for infrastructure and technology for bedside genotyping within hours of the cardiac event.
While such rapid point-of-care genotyping machines are still being developed, the technology is currently available for proactive genotyping of patients before they enter the emergency room; this approach gives doctors the results they need when they need it most.
by A.L. Del Tredici and K.D. Becker
Recently, researchers at the Scripps Translational Science Institute and associated institutions reported on a study assessing consumer reactions to genome-wide profiling for risk of common diseases (1). Over 2,000 participants purchased the Navigenics Health Compass test at a reduced rate, and were assessed at the time of the test and three months later for anxiety, as well as changes to diet, exercise and medical screening behaviors.
The Scripps study had several notable results:
First, the major finding suggested that most – 90.3% – of the study participants did not experience any short-term increase in anxiety.
This is not a surprise, since it is consistent with other studies on physician-ordered genetic tests, showing that negative psychological impact does not occur after genetic test results were reported to the patient (2, 3). In particular, the Risk Evaluation and Education for Alzheimer’s Disease (REVEAL) Study Group showed that disclosure of genetic testing results for Alzheimer’s disease, a disease which is not preventable, did not lead to anxiety, depression or test-related distress at six weeks, six months and 12 months after test results were reported.
Secondly, while the overall study population did not show significant behavioral changes in response to the genetic information, a subset (26.5%) of the people shared their genetic report with their physician and a significant proportion of this group did make positive behavioral changes.
Study participants who discussed their test results with a physician were significantly more likely to report lowered dietary fat intake as well as increased exercise activity. Similarly, the REVEAL Study Group showed that patients with the high-risk genotype for Alzheimer’s disease were also more likely to report positive changes in health behaviors, such as diet, exercise, and vitamin use as compared to people with the non-risk genotypes (4-6). In the REVEAL study, each subject participated in a 90 minute group session led by a genetic counselor, who described the test and its limitations, discussed that behavioral changes have not been shown to prevent the disease, and provided a list of unproven behavioral changes (such as diet, exercise) which were being investigated for preventive effects.
Taken together, these data are consistent with the idea that genetic testing, when administered with a healthcare provider such as a physician or genetic counselor, can motivate patients to make positive lifestyle changes.
Lastly, the Scripps study suggests that personal genetic testing may motivate people to complete the recommended course of medical screening.
Participants found to have higher genetic risk for certain diseases (among them, colorectal cancer, type 2 diabetes, prostate cancer) were more likely to say they intended to undergo more screening for a disease. While actual completion of screening tests did not increase at three months after receiving the results, the intent to screen is the relevant factor. Completion of most screening tests requires physician authorization suggesting that personal genetic testing may increase physician-patient discussions about all the risk factors relevant to a disease or condition, not just the genetics. Further, physicians might not order additional screening above the recommended levels. An increased intent to screen by the patient leading to increased compliance would be especially beneficial with regard to screening tests with historically low compliance rates, such as colonoscopy screening for colorectal cancer (8,9). It will be interesting to see the 12-month follow-up results planned for the Scripps study.
Dale Lloyd II, No. 39. (The Rice Football Webletter)
On a mild September afternoon in 2006, 19-year-old cornerback Dale Lloyd II stepped onto the practice field for a conditioning workout with the Rice University football team. After running 16 consecutive sprints of 100 yards each, he collapsed. He died the next day from acute exertional rhabdomyolysis (ER) associated with a genetic condition called sickle cell trait. Lloyd did not know that he had the sickle cell trait, yet if he had known, some simple precautions could have saved his life. In order to keep other young athletes from suffering the same fate, Lloyd’s parents filed a wrongful death lawsuit in September 2008 against Rice University and the National Collegiate Athletic Association (NCAA).
Lloyd did not know that he had the sickle cell trait, yet if he had known, some simple precautions could have saved his life.
When the lawsuit was settled in June 2009, the NCAA agreed to require that, beginning in the 2010-2011 academic year, all Division I athletes undergo testing for sickle cell trait (PMID 20825310). It is estimated that this will ultimately affect more than 160,000 athletes.
This rare risk of sudden death for those with sickle cell trait is a vivid example of how a person’s genes and lifestyle or environment play important roles in determining the risk of disease.
In Pathway’s newest genetic test, Pathway Fit™, we analyze a person’s genetic makeup for the propensity for a variety of eating behavior traits. Eating disinhibition and food desire are two of these traits, and are sometimes confused. But these two traits are different.
While eating disinhibition describes a person’s tendency to eat more than normal in response to a stimulus, food desire, on the other hand, is measured by the amount of effort a person is willing to expend to get their favorite foods. Said another way, eating disinhibition describes someone who chows down on snacks at a party, while food desire describes someone who drives 20 minutes out of their way to get their favorite barbecue.
Eating disinhibition occurs when a person loses control and overeats, which can occur when a person’s favorite foods are available, in times of emotional stress, or in social gatherings. In a 2010 study involving 729 people (381 females and 348 males), researchers examined the association between eating disinhibition and the rs1726866 marker in the TAS2R38 gene. This association was found only within the female participants in the study (PMID 19782709).
For food desire, on the other hand, there are no objective methods to quantify an individual’s fondness for certain foods. Despite this hurdle, behavioral scientists are able to measure an individual’s motivation to consume food and compare it to others’ motivations to consume food. This method of measurement is called the reinforcing value of food, and it evaluates the effort an individual is willing to expend to access his or her favorite foods (PMID 16257474).
Pathway Genomics on Twitter
Pathway Genomics on Facebook
Pathway Genomics on LinkedIn
Pathway Genomics on Tumblr
Pathway Genomics on Posterous
