This test analyzes more than 20,000 genes, and focuses only the sections of each gene that make protein. Educational information is provided about genetic variants identified that impact bones, muscles, heart, lungs, and energy metabolism. This is not a diagnostic test, nor can it be used for treatment. Your physician will order traditional, "gold standard" testing to verify and confirm any variants found in your exome. This is required before any clinical decisions can be made using genetic information initially identified in an exome. You must have a coupon code from your physician to order. If you don't have a coupon code, please call us at 888-722-7053 to learn how to enroll your physician. This test requires phone genetic counseling before and after the test, which is included in the KDx fee and will be scheduled once the order is received. If you order without a coupon code, we will call or email you to determine your eligibility, and your test request will likely be cancelled and a refund given.
This test is not available in New York. In New Jersey, you will only be charged the KDx fee, and you will pay the lab directly by credit card when you send in your sample. In Maryland this test is offered through Metro Orthopedic & Sports Therapy (M.O.S.T.) and you must have a coupon code from M.O.S.T to order. You can learn more by calling us at 888-722-7053 or emailing firstname.lastname@example.org.
You must be 18 or older to order. Test requests for those under 18 years old requires a recommendation by a physician or other sports health professional first and require parental consent. You can learn more by calling 1-888-722-7053 or emailing email@example.com.
All test requests are ordered by an independent physician. Genetic counselors are available if you have questions. You will receive a hard copy report through secure email 12-14 weeks after you submit your sample. The pricing components of this test are $990 for the lab cost, and $2010 for KDx genetic counseling, education information development, and administrative fees.
About the Test
The KDxome is a combination of two tests- the KDx Genetic Profile and an Exome.
The KDx Genetic Profile is a genetic test that identifies 56 common variations in your genes that are strongly linked to understand how your body:
· Develops muscle strength and responds to strength training
· Metabolizes fats, sugars, carbohydrates, vitamins and other nutrients
· Maintains weight
· Maintains bone strength
· Is programmed for heart and lung function
· Is pre-disposed for sports related soft tissue, ligament and tendon injuries
For the panel, the lab runs a test that looks at over 750,000 variations in your genes at once. The lab provides KDx with a data file that is reviewed and signed off on by their medical director and is considered their final lab report. KDx selects 56 variants from this list that are strongly associated with important traits sports and fitness enthusiasts should know about, and may include additional variants for you in the report that are scientifically proven to be important to know about.
The Exome is a test that looks at all of the sections of DNA in over 20,000 genes, over 3 million base pairs, that make the proteins in the body. This is called “coding” DNA. Some of the important changes happen in non-coding DNA, which is why the KDx Genetic Profile test is run, too, looking for some of the important changes in non-coding DNA.
The Exome is a screening test that can identify if a genetic variant associated with inherited genetic disorders is present. Examples of inherited disorders that may be identified by this test that people engaged in sports and fitness may want to know about include:
· Heart problems with rhythm and heart wall thickness
· Defects in blood vessel formation
· Loose joints
· Susceptibility to bone fractures
· Mild muscular dystrophies
Many of these disorders are rare, so only 2-3% of people that have an exome test will find they have a variant with an inherited genetic disorder.
These tests do not predict athletic ability. They may provide information about potential endurance, which may be considered in choosing a sport or field position, but athletic ability, as well as sport choice, is most strongly influenced by passion, opportunity, and support from family, friends and the community. These tests do give information about susceptibility to injury, but genes are not destiny. Sports related injuries are influenced not only by genes, but by other factors such as athlete preparedness, field conditions, and sport related player/player contact (tackles). The goal of this test is to help inform athletes about training regimens to consider that have been found to lower the rate of injury, but this alone does not eliminate the risk of injury.
The exome provides additional information about inherited disorders that an athlete may wish to know about. If the exome identifies a variant associated with an inherited disorder, you will be referred back to your primary care physician for a follow up lab test, specific for that variant, to confirm the finding and identify any necessary follow up. You should consider this exome analysis to be a screening test, not a diagnostic test. Diagnosis of any condition requires a clinical interaction with a physician who will consider not only the exome test results, but other lab tests and your family and medical history. KDx provides pre- and post test genetic counseling as part of this testing process. The KDx counselors follow the ethical guidelines of the National Society of Genetic Counselors to be unbiased and non-directive. You should not feel coerced to take, or not take, this test. The testing is voluntary. Results take 12 weeks to complete.
The Testing Process
A professional working with you may have recommended this test, or you may have requested it. Regardless, an independent physician will order the test on your behalf. You will receive two cheek swab collection kits in the mail, a total of 4 swabs. Just rub the swabs against the inside of your cheek, with about the same pressure as brushing your teeth, and follow the directions on the kit. Mail the kit back to the lab. About 5% of the time there isn’t enough DNA on the swab and you will need to submit a new one. You can reduce the chance that this could happen by following the collection instructions carefully.
KDx offers other options for exome analysis, should you need it. We have lab partners that process blood, which rarely requires a new sample, and for an additional fee the test can be rushed and returned in three weeks.
Results take about 12-14 weeks to come back. The laboratory provides a data file to KDx called a variant call file (VCF) that is considered to be the final lab report. KDx selects the variants in this file that are well described in the publically available scientific literature to create an educational document for you. There will be many variants in the VCF that have little to no information in the literature about them, so you may want to check in once a year to see if there are new findings. This may result in an additional fee. If you opted out of learning about certain types of disease risk, you can change your mind at any time.
In general, this test can accurately identify about 95% of genetic variation, and has a slightly higher false negative and positive rate compared to genetic tests that are optimized and targeted for a specific clinical indication. There are sections of DNA and types of genetic mutations that cannot be accurately read by this technology. The accuracy varies from gene to gene. Genetic counseling is required before you have this test in case you have a family history of a disorder that may not be detected by this test, in which case different testing may be recommended. Because this is a new type of testing, the current recommendation is to verify genetic variants that could be consistent with the diagnosis of an inherited disorder using a second method. The confirmation step is not included in this test and will be an additional cost. You will be referred back to your primary care physician to complete this confirmational test and to identify the appropriate next steps. This happens in about 2-3% of people tested by an exome. Most genetic tests only need to be done “once in a lifetime.” Because exome testing is new, there is a remote chance that changes in technology would cause you to be retested in the future. Laboratory errors are very rare, but labs occasionally make mistakes like losing a sample or accidentally mixing up the sample labels. Automation and bar coding are now common in labs, making mistakes highly unlikely.
The lab will keep any leftover DNA for up to 60 days in case repeat testing is needed. They may take your name and other identifiers off your sample and use the DNA as part of internal quality assurance testing. If you don’t want your sample used in this way, you can let us know and KDx will tell the lab to discard the sample. If you don’t want us to keep the data after 60 days for future educational interpretation, let us know and we will delete the data after your report is created.
When the results are available from the lab, KDx will send you an email with a secure token to review your results. You can print them out if you desire. Your recommendations may include suggestions for specific training programs. Your report will provide you with instructions on how to access training programs. A genetic counselor will provide additional follow up recommendations as appropriate.
Genetic Testing for Minors
Genetic testing for those under age 18 should be considered carefully. Several professional clinical genetics organizations have recommended that genetic testing should be performed on those under age 18 only when there is a clear benefit to the child. Alternatives to this test include a pre-sport physical exam with a sports medicine expert who can do a specific sports motion evaluation, and a detailed review of the family history. Certain overuse injuries seem to run in families. KDx only provides testing to minors when requested by an independent sports or medical professional and consent is provided by the child and parents/guardians.
Pros and Cons of Testing.
These test results can help you make lifestyle choices for exercise and nutrition that you might not have otherwise considered, or could have only been determined through trial and error, or a physical exam with a sports medicine specialist. This test is not covered by insurance. The genes and variants included in the test have been reviewed carefully by specialists for good scientific evidence, but this area of genetics is new and the meaning of the information could change over time. Genetic test results can sometimes be surprising and you might have an emotional reaction that you didn’t expect. Test results impact biological family members because you share your genes with them. Your test results will give them a glimpse of what their genes might have, too. If you choose to discuss the result with your family, don’t be surprised if not everyone feels the same way about the test that you do. Be considerate that some family may want to talk, or not talk, about testing in a way different than what you had hoped.
Alternatives to Testing
Alternatives to this test include a pre-sport physical exam with a sports medicine expert who can do a specific sports motion evaluation, and a detailed review of the family history. Targeted genetic tests are available based on personal and family medical history that may be more accurate and appropriate for some individuals than an exome. Certain overuse injuries seem to run in families and may be associated with joint laxity. Working with a sports training expert who can test you for performance type is another way to determine if your muscles are programmed for endurance or power.
Privacy, Data Security and Anti-discrimination Laws
All test results are confidential and will not be shared with anyone other than your genetic counselor and physician/professional who recommended the test. You can choose to share, or not share, with your other healthcare providers. If multiple family members are being tested at once with the intent of comparing their genes, genetic information within that family may be shared or implied as part of the analysis. If appropriate, discuss with your doctor and genetic counselor how family reporting will work for your situation.
KDx employs the best practices in data security and is HIPAA compliant. In todays world, however, we have seen that even some of the most secure entities have been compromised. In addition to following the medical privacy guidelines, we never store your payment information, and your personal information is kept separate from your result data, linked only by a unique identifier and behind separate firewalls with different authentication required, to minimize any risk.
The Genetic Information Non-Discrimination Act (GINA) is a federal law that protects genetic information, including family history. GINA prevents employers (including professional sports teams) and health insurance companies from using your genetic information to determine employment decisions, or to impact health insurance coverage or premiums. GINA does not apply to life or disability insurance or the military. GINA does not address other potential forms of discrimination related to sports and fitness, such as sports scholarships or signing with sports agents.
Email us at firstname.lastname@example.org or call 1-888-722-7053, Monday through Friday, 9am – 5pm Pacific Time.
Version October 16, 2015