Direct-to-consumer gene tests: High risk or helpful?
Joanna Spahis, MSN, RN, CNS, AGN-BC
This course is 1 contact hour
Course must be completed by February 14, 2020.
Goals and objectives: The purpose of this program is to familiarize nurses, fitness professionals, and health educators with direct-to-consumer (DTC) genetic testing kits, their benefits and drawbacks, and the role of healthcare professionals in helping consumers make educated decisions about their use. After studying the information presented here, you will be able to:
  • Describe the types of genetic testing available and the types available through DTC genetic test companies
  • Explain the possible benefits and drawbacks to DTC genetic testing
  • Describe three patient education points involving DTC genetic testing that a clinical nurse specialist trained in genetics may provide to patients
Nurse.com educational activities are provided by OnCourse Learning, a Relias LLC Company. For further information and accreditation statements, please visit Nurse.com/Accreditation. The planners and authors have declared no relevant conflicts of interest that relate to this educational activity. Relias LLC guarantees this educational activity is free from bias. See “How to Earn Continuing Education” to learn how to earn CE credit for this module or visit http://ce.nurse.com/instructions.aspx.
Lynette is a woman in her 50s who wanted to know whether she was at greater-than-average genetic risk for Alzheimer’s disease. Her mother was having memory problems but wouldn’t seek medical care. Lynette felt anxious and was having frequent abdominal pain.

She sent a sample of her saliva to an online genetic testing site that offered a risk panel for several genetic conditions, including Alzheimer’s. The site said that she would get information about her risk for certain diseases compared to that of the general population.

Lynette hoped that this information would help her start an informed discussion with her mother and that it might encourage her mother to be tested.
The power of genes
Nearly every human disease has a genetic component, and nurses and other healthcare professionals have an important role in educating the public about genetic services. Discovering the role of genetics in health and disease has been a fascinating, yet elusive pursuit from the time of Gregor Mendel, the Austrian monk who first explained hereditary traits through pea experiments in the 1800s, to the completion of the Human Genome Project in 2003, which identified and mapped the 20,000 to 25,000 genes of humans. New knowledge and technology related to genetics and genomics are shaping every aspect of healthcare, including disease prevention, testing and screening, treatments and therapies, ethical issues, and public policy. Registered nurses in all practice settings will play a role in the delivery of genetic information to the public, according to the American Nurses Association’s Scope and Standards of Practice for Genetic/Genomic Nursing.1 More than 2,000 genetic tests are now available to help diagnose and treat more than 1,000 conditions.2 Some genetic tests are available only with a healthcare provider’s order while DTC testing is available directly to the consumer without an order from a health practitioner or involvement with an insurance company. Sometimes DTC tests include involvement by a health professional working for the testing company, such as a genetic counselor or genetic nurse. This is ideal in order to explain the results and answer questions. Tests vary in price from hundreds to more than a thousand dollars.3 Genetic testing may analyze chromosomes, DNA, RNA, single genes, or gene products to search for abnormalities that may lead to disease. There are different categories of health-related genetic tests: preimplantation and prenatal testing, newborn screening, carrier testing, diagnostic testing, and predictive testing. Preimplantation testing searches for genetic abnormalities in embryos from in vitro fertilization before implantation to the uterus. Prenatal testing identifies genetic conditions in the fetuses of pregnant women. Newborn screening offers a panel of inherited conditions for which all newborns are screened at birth. Carrier testing is used to identify possible carriers of genetic mutations who are asymptomatic. DTC genetic testing may be diagnostic or predictive.4 In diagnostic testing, a person who already exhibits symptoms of a disease or has positive screening results is confirmed to have the disease, such as in single-gene disorders, such as cystic fibrosis. Predictive testing can identify certain gene alterations that put a person at higher risk for eventually developing a disease although it does not guarantee that a person will acquire the disease. This type of testing can be helpful in certain multifactorial diseases, such as Alzheimer’s disease, diabetes, and certain cancers. Multifactorial conditions are influenced by both heredity (genes) and environmental factors, such as diet, level of fitness, and exposure to harmful substances.


Mail-order genetics Companies have offered DNA testing directly to consumers since 2003, and now over 40 companies offer such testing. (A list of companies is available through the International Society of Genetic Geneology.) The market is competitive, and a summary of nine of the most popular DTC genetic companies provides information about some of the tests and services offered, and when the companies were founded.5 Much of DTC testing is done by analyzing single nucleotide polymorphisms (SNPs or “snips”). These represent very small changes in the DNA code that can predict one’s predisposition to certain diseases. Other SNPs may be associated with a protective effect against some diseases. Certain combinations of SNPs are thought to predispose people to the most common chronic illnesses. However, many genetic professionals agree that not enough is known about how these variants interact with the environment and lifestyle habits to be able to make accurate or useful predictions. Scientists believe there are multiple SNPs that interact with environmental factors to produce one’s risk for most major chronic conditions and that not enough is known to be able to give the public the accurate predictive information that it seeks.6
DTC testing is different than other types of genetic tests in several ways. The most obvious is that it is consumer driven. Until recently, genetic testing was available only through genetic health professionals, such as physicians, nurse practitioners, and genetic counselors. Now anybody can order DTC testing online from home. Companies don’t make predictions about disease, but rather give the consumer an idea of “relative risk,” that is, the person’s risk of getting a disease compared to the average population risk.7 Another substantial difference between established genetic tests and DTC tests is that some of the DTC tests available are not entirely valid or useful. There are few standards that measure the accuracy of the tests, which are based directly on the predictive ability of the thousands of SNPs that can be delineated by the molecular techniques of the DTC services. These SNPs have been established by comparing a group of people with a disease to a group of people without the disease. However, many other variables can affect disease risk, such as whether a person has other protective genes for that disease, as well as lifestyle and family history. In fact, lifestyle factors, such as diet and exercise habits, may account for as much as 70% of our susceptibility to the most common chronic conditions of adulthood, such as diabetes, heart disease, and some cancers.8 People whose SNP panel compares more closely to the group of people with the disease in question may not ever develop the disease, and others may develop the disease even in the absence of a particular SNP profile. This can mislead and confuse the public. DTC sites may say that they do not give medical diagnoses or advice, yet consumers may not understand the information they do receive. The information may be valid and relevant, uninformative — or totally misleading. DTC testing sites are still largely unregulated by the government. Established genetic tests, however, are ordered through a clinical testing laboratory that is accredited by the Clinical Laboratory Improvement Amendments, a set of federal quality standards; by the state; or by another accrediting agency. There have been attempts at regulation of DTC testing companies by the U.S. Food and Drug Administration (FDA), the Federal Trade Commission, and Congress, but not much coordination has occurred between agencies. A recent development is the FDA involvement in oversight of laboratory-developed tests (LDTs). These are in-vitro diagnostic tests that are developed and used in a single laboratory, and include some DTC genetic tests. The FDA has identified some problems with several LDTs including false claims without adequate evidence, errors in calculation of results, and falsification of certain data. These may have resulted in improper diagnoses or incorrect treatment of diseases. In July 2014, the FDA announced that it would create an oversight framework for LDTs based on the risk to patients. The FDA says it has the authority to regulate LDTs and will release its final report on LDT oversight in the next year.9
Ethical issues
How to earn continuing education
THIS COURSE IS 1 CONTACT HOUR
1.
Read and take this continuing education course for $12 at https://www.nurse.com/ce/direct-to-consumer-gene-tests. If you have a CE Direct login and password (generally provided by your employer), please login as you normally would at https://cedirect.continuingeducation.com and complete the course on that system.
2.
3.
If the course you have chosen to take includes a clinical vignette, you will be asked to review the vignette and answer 3 or 4 questions. You must answer all questions correctly to proceed. If you answer a question incorrectly, we will provide a clue to the correct answer.
4.
Once you successfully complete the short test associated with the clinical vignette (if there is one), proceed to the course posttest. To earn contact hours, you must achieve a score of 75%. You may retake the test as many times as necessary to pass the test.
All users must complete the evaluation process to complete the course. You will be able to view a certificate on screen and print or save it for your records.
In support of improving patient care, OnCourse Learning (a Relias LLC Company) is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
OnCourse Learning is also an approved provider by the Florida Board of Nursing, the District of Columbia Board of Nursing, and the South Carolina Board of Nursing (provider # 50-1489). OnCourse Learning’s continuing education courses are accepted by the Georgia Board of Nursing. Relias LLC is approved by the California Board of Registered Nursing, provider # CEP13791.
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The upside
What are the possible benefits of DTC genetic testing? When consumers are well educated about the information they seek and the limitations of test results, testing can increase their awareness of personal health issues. For example, with a known family history of heart disease combined with a genetic predisposition to hyperlipidemia, a person may be motivated to eat a healthier diet, improve exercise habits, or lose weight to reduce the risk of myocardial infarction. Family history information alone may not be enough to prompt important lifestyle changes. Information from DTC genetic testing also may lead to improved or more frequent disease surveillance. For example, a woman who knows she is at increased risk for Crohn’s disease may seek screening colonoscopies at a younger age than is recommended for the general population. Another benefit of DTC testing could be the reassurance that one is not at increased risk for a disease about which concerns existed, perhaps because of family history. When a parent develops Alzheimer’s, one may worry about one’s own risk. A test that reveals that one’s risk is just average can relieve anxiety. This does not guarantee that a person will not get the disease, only that his or her risk is the same as the general population’s risk. The management of common chronic diseases may also improve as a result of knowledge from DTC genetic testing. If people discover that their diabetes has a genetic link, for example, and inform family members, those family members may become more vigilant about diet and exercise to try to prevent or delay the onset of diabetes. Family members with special knowledge of disease risk may seek testing themselves or at least discuss testing with their providers in light of the new information. For many people, the cost of DTC testing is no longer as prohibitive as it was just a few years ago. Costs have decreased from thousands of dollars to a few hundred dollars in some cases thanks to recent advances in computer technology, robotics, and molecular biology. Sequencing an individual’s genome is becoming both less expensive and faster every couple of years. One Internet company, Genos, advertises that it can sequence your whole exome (the coding region of your genome) for $399.13
As mentioned, the scientific community has concerns about DTC genetic testing. One is an ethical concern about the lack of regulations covering informed consent, a cornerstone of laboratory testing in general. The U.K.’s Human Genetics Commission, a government advisory body, issued a set of proposed principles for DTC genetic testing in an effort to elevate the standards and consistency of these services. The principles would obligate DTC genetic services to provide consumers adequate information so that they could make truly informed decisions. Test providers would have to obtain written consent before testing and before personal or genetic information could be released to a third party.14 Such safeguards are not in place in the U.S. Another concern is that not all DTC genetic testing companies have explicit privacy and confidentiality policies.15 Without them, confusion may exist about who owns the test results. Companies may share results or samples with other laboratories for future research. Genetic health professionals worry that consumers may not be savvy enough to consider these issues before undergoing testing.

Go online to read the full continuing education module and take the test.
A few weeks later, Lynette’s results were available. She was relieved to find that her risk for Alzheimer’s disease was average, the same as that of the general population. Then she noticed another result: She had a higher-than-average genetic risk for developing a type of hereditary colon cancer. Remembering her recent abdominal cramping plus loose stools, she thought that she might already be having symptoms associated with colon cancer. She called the number on the genetic testing website to speak to a genetic health professional to better understand her test results and to learn what to do next. But the representative offered no more information about her results and suggested she call her healthcare provider for further recommendations.
This scenario illustrates the potential benefits and disadvantages of direct-to-consumer genetic testing. This relatively new form of genetic testing allows consumers to collect a sample of their DNA, mail it to a company, and receive a report on their possible genetic risk of disease. However, consumers may receive confusing or unexpected results and may not receive competent guidance from a genetic health professional.
The DTC difference
To protect the public from information that may not be useful, valid, or well understood, critics of DTC testing propose that access be restricted to certain tests unless a healthcare provider orders them. Some consumers have reported getting different test results from different companies. Such discrepancies highlight the lack of precision of many of the DTC tests. One of the biggest problems with DTC genetic testing is the sporadic involvement of genetic counselors, physicians, or nurses with the expertise to interpret test results. These results from the DTC testing companies also are not connected to the patient’s medical record, which can cause fragmented healthcare.10 Another safeguard could involve regulating advertising and limiting claims that companies could make about their genetic tests until more clinical research data is available. The FDA has said that it is interested in regulating only “clinical DTC genetic tests,” defined as those “intended for use in the diagnosis of disease or other conditions, or in the cure, mitigation, treatment or prevention of disease ….”11 The FDA would not regulate genetic tests that are labeled “informational.” These are DTC tests that are “designed to provide access to personalized genetic information, possibly in conjunction with certain interpretive tools.” The likely consequence of this is that DTC companies will be forced to more clearly label their tests as either “clinical” or “informational.”11 Even if state or federal laws are enacted, it will be difficult to enforce them when it comes to international and Internet-based companies. The Centers for Disease Control and Prevention established the Evaluation of Genomics Applications in Practice and Prevention Initiative to provide a process for evidence-based assessment of genetic tests and other genetic technologies. This group has begun to evaluate genetic tests used by health professionals, which may eventually lead to more valid DTC testing. There are current working group recommendations for six common, complex diseases that have genetic components.  People need to understand that DTC genetic testing can be expensive and often is not reimbursed by insurance. But the fact that insurance companies often aren’t involved may appeal to those who want to keep the results private. The Genetic Information Nondiscrimination Act of 2008 prevents employers and health insurers from discriminating based on genetic test results, but people still will go to extra lengths to protect their privacy.12
Perhaps the most important point is that DTC genetic testing may have limited usefulness in predicting health and disease. Nurses and other healthcare providers as a team need to have knowledge about DTC genetic testing to reduce the chance of harm to consumers, including loss of money, loss of privacy, and misinformation that may lead to the wrong health choices.
Restrict access and limit claims?

Is purchasing genetic testing kits worth the cost?

Earn 1 credit hour with this free continuing education course
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EDITOR'S NOTE: Joanna Spahis, MSN, RN, CNS, AGN-BC, is a genetic clinical nurse specialist at Children’s Medical Center in Dallas.
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