Choosing to have a child is one of the most important decisions in a person’s life. All prospective parents want to make certain that the new life they created and plan to nurture and love is welcomed into our world with as much preparation as possible. And more to the point, parents want to make certain that they are informed. For this reason, Pathway now offers Extended Carrier Status Screening.

What is carrier screening?

Pathway’s Extended Carrier Status Screening service examines prospective parents for 76 recessive genetic diseases. This newly extended service is available to physicians and their patients.

It is important for prospective parents to be equipped with critical information regarding their own genetics when considering conception.

Although recessive disorders are rare, they become very real when a family has a child unexpectedly born with two disease-causing recessive mutations. Most of our genes are present in two copies because we inherit one copy from each parent. Recessive inherited diseases are those which show no symptoms unless both copies of a gene, one from the mother and one from the father, are altered or mutated in the child. A carrier is a person who has only one copy of a disease-causing mutation for a recessive inherited disease, is not affected, and does not show symptoms of the condition. This means that both prospective parents could be carriers and not know it. Moreover, if both parents are found to be carriers of mutations that cause the same disease, their child may be at risk of developing that disease.  Some of these diseases are easily treated if diagnosed early. Other conditions, however, are devastating.

Why is carrier screening needed?
Traditionally, pregnancy-related genetic testing has been limited to prospective parents whose family history or ethnicity suggests that they may be at an increased risk for a particular genetic disease. One example of this is genetic screening for Tay-Sachs disease mutations in people of Ashkenazi Jewish origin. The problem with this approach is that it relies on self-reported ethnicity and family history, which can be incomplete or misleading. Additionally, the ethnic distribution and prevalence of many genetic disease-causing mutations is not known.

The Simple Solution
Using only a saliva sample, advancements in science, medicine and laboratory technology now make it possible to detect an exceptional number of these recessive mutations in prospective parents. To provide the most complete report possible, we recommend that both prospective parents are tested at the same time.

Accurate and Safe Analysis
Our on-staff geneticists and physicians crosscheck and validate the information in each report before the genetic results are delivered to the ordering physician. All samples go through rigorous analysis and quality control, and Pathway’s reports reflect the best available genetic evidence. We use custom disease-targeted genotyping technologies that are capable of testing for the presence of thousands of mutations in a person’s DNA. Analysis of genetic testing results is accomplished by our highly trained staff and is relayed back to the physician and patient securely and privately in a comprehensive, self-explanatory report. Our privacy and security program protects an individual’s saliva sample, DNA extract, genetic testing and report results, as well as any other personally identifiable information.

Genetic Counseling
We are devoted to making our testing process and reporting as simple as possible; however, we understand that, for some people, testing one’s genetic makeup can be a daunting experience. It is our goal to make the testing process as worry-free as possible. One of the ways we do this is by offering physicians and their patients a free genetic counseling service, which is fully staffed by qualified counselors who are Board-eligible/certified by the American Board of Genetic Counseling. All our genetic counselors are under the supervision of our on-staff medical doctors.

Summary
Because the reports we provide are meant to be educational and informative, the practical information within the reports provides prospective parents with a foundation to begin, or continue, a conversation with their medical providers. The information in the report is not meant to frighten or intimidate people into making hasty decisions, but rather to strengthen the patient-physician relationship through the availability of genetic information. Moreover, extended genetic carrier status testing practically informs and educates prospective parents about the possibility of passing on a recessive genetic condition to their children. By providing physicians with another tool to help personalize the delivery of care while educating patients about their risks, extended genetic carrier status testing holds the promise of providing better, more comprehensive and personalized healthcare at an affordable price. For more information about Pathway’s Extended Carrier Status Screening service, or our other services, please contact a Pathway representative at (877) 505-7374 or feedback@pathway.com.

For patients under the care of a physician, testing is quite simple. First, the patient must speak with his or her physician about Pathway’s services. Throughout this entire process, our Board-eligible and -certified genetic counselors are available to answer any related questions.

THE STEPS

For Patients

Step 1: First, ask your doctor about Pathway Genomics’ personal genetic reports. In addition, you can easily notify your physician of your interest in Pathway’s services, by visiting www.pathway.com/physicians/notify and simply filling in the blanks!
Step 2: Using Pathway’s Saliva Collection Kit, you provide a small amount of saliva. Your physician will mail your saliva sample to Pathway Genomics, along with the ordering information.
Step 3: You will need to go online to provide profile information, consent to the testing, and pay any laboratory processing fees.
Step 4: Wait for instructions from your doctor.

For Physicians

Step 1: First, you should meet and discuss Pathway’s services with your patient.
Step 2: Next, you will need to contact Pathway Genomics to arrange for a Saliva Collection Kit to be sent to your office.
Step 3: Then, using Pathway’s Saliva Collection Kit, arrange to collect a saliva sample from your patient.
Step 4: Lastly, simply complete and fax the physician order form to Pathway.

Recently, Dr. Eric Topol weighed in on the use of pharmacogenomics and the benefits it offers to the average consumer. He argues, “What is needed is more scientific research to study the comprehensive list of commonly prescribed drugs, and implementation of these advances into day-to-day medical practice.”

Dr. Eric Topol is the Director of the Scripps Translational Science Institute in La Jolla, California.

“Eric Topol, the cardiologist who helped establish the effectiveness of several important blood thinners and who raised early concerns about the risks of the arthritis drug Vioxx, has a wonderful piece in the current issue of Science Translational Medicine, a research journal, speculating about how new genetic technologies could enter the health care system.” Click here to read more…

“We are all biologically unique, even those of us who have an ‘identical’ twin. The way we respond to a medication varies considerably, from being unresponsive, hyper-responsive, or developing serious side effects.” Click here to read more…

“All illnesses have some hereditary contribution,” said Dr. Francis Collins, director of the National Institutes of Health (NIH) and former director of the National Human Genome Research Institute (NHGRI). “Genetics loads the gun and environment pulls the trigger.” It is a common misperception that a person’s genetics somehow determines his or her future, and that understanding the human genome is comparable to accessing the source code of a complex software program that can be reverse engineered to understand how everything works and then be fixed, prevented or controlled. As with all genetic discussions, this one is a bit more complex and cannot be distilled to one paragraph. In this light, Pathway feels it is necessary to further examine this topic by discussing the common misperception of genetic testing as being deterministic, when essentially it is predictive.

The current American political and social context is perfectly aligned with this line of discourse, because it is with this misunderstanding that the U.S. Government Accountability Office (GAO) questions the value of genetic testing when its report to the Subcommittee on Oversight and Investigations revealed, “Donor 4 had a pacemaker implanted 13 years ago to treat atrial fibrillation. However, [23andme] and [Decode] found that he was at below-average risk for developing atrial fibrillation, and [Pathway] and [Navigenics] claimed that he was at average risk.” The implication is that our collective analysis of his genetic risk must be wrong, simply because he has worn a pacemaker for 13 years. The problem with this conclusion is that genetics does not work in a vacuum, and environment and lifestyle pose a large role in the development of a health condition such as atrial fibrillation.
 
The first item to address is that this dialogue is focused on genetic testing to estimate risk for complex health conditions, such as colon cancer and atrial fibrillation, and is generally not applied to carrier status testing, drug response, or other types of genetic testing. Complex conditions have multiple possible causes in addition to genetics, including environment, lifestyle, and family history. The risks for many complex diseases can be mitigated by making informed personal health choices.

The Genetic Misperception
It seems probable that much of the misunderstanding originates from science fiction and entertainment media, where omnipotent governments or diabolical scientists manipulate genetics to exercise greater control over the world. This can make for great entertainment and thoughtful consideration of our future, but in this context, reality is much different from fiction. When used for assessing risk of complex health conditions, genetic information is more accurately considered as an additional tool to be used in making more informed health assessments and plans for prevention. While a family history of heart disease does not guarantee that every child and grandchild will get the disease, it is a valuable tool in encouraging future generations to make lifestyle changes for better health.

Perhaps the best way to poignantly illustrate the difference between predictive and deterministic is through an analogy. Every evening, meteorologists on the local news inform the community of the weather to expect for the coming days. Based on a scientific analysis of weather patterns and meteorological conditions, these educated meteorologists might tell us there is a “60% chance of rain on Tuesday,” or to “Expect sunny and 70 over the weekend.” Is this prediction to be used as fact? Not necessarily, as that particular Tuesday may very well bear no rain, and the weekend may turn out to be partly cloudy and a chilly 60 degrees. Collectively, it is safe to conclude that we would agree that weather reports are to be used as predictors to inform, and not to be seen as foretelling the precise future. The point here is that while these meteorologists may have been slightly incorrect in their predictions, it does not make the meteorological predictions useless – we still pack umbrellas and plan events with friends and family based on the best information that we have.

Bringing this back to complex health conditions and genetics, learning that one does not have known genetic risks that contribute to cardiovascular disease is not an excuse to enjoy a cigarette with every helping of red meat. On the other side of the spectrum, learning that one has an increased risk of cancer is no reason to throw in the towel and surrender to your ultimate destiny. The information from personal genetic testing can and should be used as a motivational tool to encourage people to make good health decisions.

Transcending Tradition
Some critics claim that there is nothing in a genetic test that cannot be determined from a comprehensive analysis of one’s family history. This assertion is clearly an appeal to tradition and can only serve as a catalyst for stagnation. Only a few decades ago, the common medical practice was to not inform patients of the diagnostic details surrounding a terminal illness, such as cancer. Either out of respect or out of lack of knowledge, many people were reported as having died of old age or something broad such as heart problems. The consequence of this practice has led to a lack of understanding. It has not provided the people of this current generation, who are largely concerned with preventive health, with the information to understand their individual risk of conditions such as breast cancer, heart attack or Alzheimer’s disease. That said, the medical community’s current role in responsibly informing patients of these matters has dramatically improved. Using a person’s genetic information to further investigate the propensity for a complex disease is another piece of the health and wellness puzzle, which can be integrated in preventive health care.

Conclusion
The Oxford English Dictionary defines predictive medicine as “the branch of medical science or practice concerned with the prediction of the occurrence or course of disease in individual patients.” It is with this definition that we, as a culture, and our government need to view personal genetic testing.

Simply stated, as it relates to complex health conditions, personal genetic testing is predictive, and not deterministic, and it can be used as an additional piece of the puzzle. The perception that genetic testing is not useful because of its predictive nature is a fallacy.

Finally, this brings us back to the GAO report’s “Donor 4,” the colon cancer survivor who also had a pacemaker implanted 13 years ago. While the predictive nature of our genetic testing may have been imperfect for atrial fibrillation, Pathway, 23andme, and Navigenics each interpreted his genetic data to suggest an “Increased Susceptibility,” “Elevated,” and “Above Average” respectively for colon cancer. In respect to this individual’s privacy, we will not reveal what his lifestyle survey and family history suggested about his risk for this health condition, but the reports from all three companies clearly and consistently indicated increased genetic risk.

Pathway envisions a health system in which people such as GAO’s “Donor 4” use their genetic information, coupled with family history, lifestyle and environmental factors, to make informed health decisions and never have to suffer from complex health conditions that their genetic makeup has loaded in their guns.

Pathway was very busy last week. We had several meetings with FDA, and we participated in the Subcommittee on Oversight and Investigations’ hearing on “Direct-To-Consumer Genetic Testing and the Consequences to the Public Health,” held last Thursday. The media has generally characterized the hearing as a slam on the direct-to-consumer genetic testing industry, picking up on statements made by congressmen of “snake-oil,” or according to the Government Accountability Office’s (GAO) report, test results that “are misleading and of little use to consumers.” While we feel that the Congressional hearing did raise some valid concerns, many of these concerns are unfairly and inaccurately being applied to the three innovative companies that testified: Pathway Genomics, Navigenics and 23andme.

We want the public, FDA and Congress to know that Pathway is not a direct-to-consumer (DTC) genetic testing company. We define DTC as allowing a customer to order and receive test results without the involvement of a licensed physician. New technologies have enabled expert physicians to facilitate this in ways that differ from a traditional physician-patient relationship, and we feel that this is an important trend in facilitating patient access to expert providers, lowering costs, as well as addressing some privacy concerns. Nevertheless, even though Pathway has always had expert physician and genetic counselor review and oversight over the ordering and delivery of our genetic testing services, Pathway voluntarily suspended the ability for customers to purchase a collection kit at our website or any retail outlets.

Furthermore, the GAO report released at the congressional hearing investigated 15 companies and identified some practices of DTC genetic testing companies that should not be tolerated and have no place within the scientific and medical community. As acknowledged during the hearing, none of the companies that testified engage in those practices, and only one of the other twelve was identified. As a result, media coverage following the hearing focused on Pathway Genomics, Navigenics, and 23andme, and it unfairly associated the scientific leaders of this emerging industry with what the GAO referred to as “bottom feeders” who are exploiting people’s misunderstanding of genetic tests.

We would be remiss if we did not recognize that the GAO report highlights some legitimate concerns that are relevant to Pathway. During the hearing, an audio clip was played that implied that one of Pathway’s genetic counselors encouraged a woman to submit her fiancé’s saliva sample in order to surprise him with a genetic report. It is important to know that the caller was talking to a customer service representative, and not a genetic counselor. Regardless, this occurrence was brought to the attention of our management team immediately after it happened, and long before we knew it was part of a GAO investigation. We addressed the issue with the customer service team to make it clear that we do not accept samples to be submitted on behalf of someone else. Furthermore, we require personal consent for every sample.

Moreover, the GAO highlighted different interpretations in risk of outcomes reported by the GAO. We appreciate how one concludes from this that these tests are unreliable, but it is important to recognize that only applies to the health conditions report, not carrier status or drug response and that this report provides an estimate of risk, not a diagnosis of disease or prediction.   Differences in interpretation of test results are not uncommon in medical care. This is why second opinions are often requested by patients, and it is why doctors differ in their opinions on how to guide patient treatment. It is for these reasons that we encourage our customers to use this information as one additional piece of information to be used in making health decisions, as an enhancement to and not a replacement for other risks including environment, lifestyle and family history. Pathway, 23andme and Navigenics all apply different rules for which genetic markers to use and which research paper to reference for odds ratio calculations, but that does not make them incorrect. To help offer transparency into how Pathway calculates results, we are developing a new web page laying out our processes for scientific curation, the criteria that we use in selecting research publications and the methods that we use to calculate risk for the health conditions report. Additionally, we support the common conclusion that regulatory bodies and industry need to agree on standards, and look forward to an ongoing dialogue with FDA and others to define those.

Moving forward, if this past week highlighted one thing for us it is that genetics and genetic information is significantly misunderstood. Some of this is because our knowledge is swayed by science fiction, popular movies and television shows that portray extreme scenarios, often emphasized for their entertainment value over their scientific credibility. Further, the field of genetics is broad, and it covers a variety of testing. The discussions about legitimate issues and concerns need to be focused more specifically to the types of testing and procedures being analyzed. The issues and concerns surrounding genetic risks for complex, adult-onset health conditions are very different from those surrounding carrier status testing, drug response testing, or other forms of testing. Given the complexity of these issues, in-depth objective analyses and discussion often do not occur, intensifying the potential for misconceptions.

As a leader in this emerging industry, Pathway Genomics does not seek to hide behind these realities or use them to brush off legitimate concerns. We believe that genetic testing holds the promise of fundamentally shifting the delivery of health care, allowing for more personalized treatment and proactive prevention of disease. While our understanding of genetics is still growing, it is no reason to postpone taking advantage of the best information we have today. To that end, this post marks the beginning of a multi-series project being initiated by Pathway to educate physicians, patients, policy makers, and anyone else interested in a greater understanding of the emerging field of genetics. This series will aim to be objective and informative, and will focus on a single topic at a time, allowing us to provide the depth and focus that are needed to establish a fair understanding of this industry, its promise and its risks. Our first post, which will be available here next week, will provide an in-depth explanation of why different genetic testing companies can produce different estimates of risk for complex health conditions.