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Discussing Genomics with Patients

Suggestions for Talking to your Patients about the ActX Service

You may find the information on specific topics below helpful when discussing genomic screening using ActX testing with your patients. After authorization for ActX testing, patients will go through an online consent process.

Pharmacogenomics, Drug-genome Interactions

89% of your patients have genetic variants that impact how their medications work. ActX pharmacogenomics screening covers most U.S prescription drugs for which there is sufficient evidence of a genetic effect on adverse reactions, efficacy, or dosing. If used within your Electronic Health Record, the prescriptions you are writing will automatically be checked and you will be alerted by GenoACT℠ clinical decision support so you can adjust the prescription.

Putting it in perspective for your patient: About one in six U.S. prescriptions are for a medication known to be affected by the patient’s genetics. Medications are developed for the “average” patient but each patient is an individual. The response rate for many medications ranges from 25% to 75%. Adverse drug reactions are very common and some can cause hospitalization. Personalizing drug therapy with genetics can help to avoid ineffective medications and adverse reactions.

Actionable Genetic Risks

3-4% of your patients have actionable genetic risks. These are serious cancer, cardiovascular or metabolic risks where there is evidence that early intervention makes a difference. The ActX GenoACT℠ service alerts you to a wide range of actionable adult-onset disease risks. NOTE: ActX testing is a screening test and not intended for high risk patients. ActX testing includes only selected variants and not all variants – a disease specific diagnostic test should be used for high risk patients.

Putting it in perspective for your patients: While most cancer and cardiovascular disease does not have a known specific genetic cause, there are many hereditary syndromes that can cause cancer, cardiovascular or metabolic disease. For example, around 82,000 Americans a year get cancers that are hereditary.

Carrier Status Coverage

60% or more of your patients are carriers of at least one genetic condition that they could pass on to their children, but are unaffected themselves. If both parents are carriers, then a child has a one in four chance of having the condition. ActX Carrier Status reporting includes a large number of recessive conditions and is useful for family planning.

Putting it in perspective for your patient: For patients considering pregnancy, the majority will be carriers of a recessive genetic condition. Many carrier screens cover less than 10 conditions, ActX covers more than 100. Normally both parents have to be carriers for children to be at risk.

Testing Limitations:

It should be noted that the ActX Genomic Screening looks only at selected variants for the targeted genes and not for all possible genetic variants. Individual genetic probes on the micro-array may fail. Consequently, a negative result does not mean that there is no risk for a particular drug-genome interaction or a particular medical risk. Like all medical tests, both false positive and false negative results may occur.

ActX testing is a screening test and not intended for high risk patients. ActX testing includes only selected variants and not all variants – a disease specific diagnostic test should be used for high risk patients.

Putting it in perspective for your patient: Like all medical tests, ActX genomic screening can include false negatives and false positives, although it is usually accurate. Serious risks are confirmed using a second test (Sanger sequencing). High risk patients (ie those with a strong family history of a particular condition) should be tested using a condition specific genetic test.

ActX Frequently Updates Patient Results as New Evidence-based Clinical Studies Become Available

ActX keeps your patient’s genomic information on file and frequently re-analyzes it using our continually updated ActX KnowledgeBase, which is based on the latest peer reviewed literature. As a medical provider, you will be alerted if significant and clinically important updates occur, either in your Electronic Health Record (EHR) or by email if not using ActX within the EHR. The patient’s genomic profile will also be updated. Patients normally have access to updates 5 to 7 days after your alert, and receive their own alerts.

Putting it in perspective for your patient: ActX is not a one time test, but rather a genomic service that frequently re-analyzes your genetics based on the latest literature and ActX’s latest content. While your physician will be alerted first, you will also receive alerts and updates.

Patient Concerns about Privacy and Security

Your patient’s information is kept securely and privately. Access is restricted to the patient and authorized medical staff. Using the patient web portal, the patient can decide which physicians and clinics can access their genomic data. The Patient Genomic Profile, while visible in the patient chart, is not part of the actual chart. Under GINA, a U.S. law, employers and medical insurance companies are not allowed to use the patient’s genetics.

Patient Access to their Genomic Profile

Patients have access to their genomic profile through a web portal and a smartphone application. They can also share their genomic profile with any physician they choose. Patients receive access 5 to 7 days after the physician receives the results.

Putting it in perspective for your patient: You can access your information through your private access portal on the ActX Web site, or through the free ActX Mobile Application. You can provide this genetic information to any physicians you choose by giving them access.

Your Patients may ask about Cost

If you have a question on ActX test pricing you can see the price by clicking on the Physician link on any genomic profile in your EHR, logging into the ActX website, or by contacting us. The test is generally covered by HSA/FSA medical savings accounts.

Putting it in perspective for your patient: Single gene sequencing until recently cost thousands of dollars. Now broad genomic screening covering hundreds of genes costs is affordable for most patients and is covered by most HSA/FSA medical savings accounts.

Which ActX Screening or Testing Service is the Right Choice for your Patients?

You may find that some patients are not comfortable knowing their genetic risk information. In these cases, you may recommend that they sign up for the ActX Pharmacogenomic Service only, which focuses only on drug-genome interactions.

Confusion about Different Types of Genetic Testing

Patients can be confused about the difference between tests such as the ActX test which are “Medical Genomic screening” tests and “Entertainment Genetic testing” or “Cancer Genetic Testing”. Using the links below, which can be printed, may be helpful in your discussions.

College of American Pathologists