X4 Pharmaceuticals is a biopharmaceutical company and a leader in the discovery and development of novel therapies for the treatment of diseases of the immune system, with a focus on rare diseases and those with limited treatment options. X4 recognizes the important role that genetic testing can play in diagnosing rare immunodeficiency disorders.

Invitae Corporation (NYSE: NVTA) is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae’s goal is to aggregate the world’s genetic tests into a single service with higher quality, faster turnaround time, and lower prices. For more information, visit the company’s website.

Genome Medical is the first nationwide specialty medical practice that is focused on genetics. The Genome Medical team features top genetic experts and primary care MDs—all dedicated to helping accelerate the integration of genetics into everyday health care.

If you or someone for whom you provide care qualifies, there’s no cost for the genetic test and the genetic counseling due to X4 Pharmaceuticals’ sponsorship. If you or someone for whom you provide care falls outside the eligibility criteria, a genetic counselor can discuss options for obtaining testing for you.

A genetic counselor is a genetic expert that can help you understand how genetics impacts your health, whether genetic testing is right for you and what tests might be most appropriate. A genetic counselor is specially trained to understand the complexities of genetic tests and how to interpret an individual’s unique results.

Genome Medical’s national network of genetic experts includes both medical geneticists and genetic counselors. Your consultation will most likely be with a genetic counselor who is a medical provider specially trained to understand the complexities of genetic tests and how to interpret the results. In certain cases, you may also work with a medical geneticist, a physician trained in general medicine, genetic diagnosis and the treatment of patients with genetic disorders.

Genetic counselors start by learning what important health questions you have, assessing the risk for disorders of interest, and then reviewing how genetic testing may help answer them. Their recommendations are tailored to address the issues that are most important to you. If you have questions about the test results, genetic counselors are there to explain what it means and work with you to understand best next steps. If you have questions, contact your healthcare provider.

Genes are made up of chemical building blocks called DNA (deoxyribonucleic acid). We inherit our genes from our parents. Genes contain instructions for all of our traits – such as hair color, eye color, aspects of our health – many things that make us who we are. Although we can’t see them, genes are in the millions of cells throughout our bodies. Genes are found in structures called chromosomes, which are also in our cells.

Since genes have instructions for our health, small changes in the way our DNA is spelled in a gene – like a typo – can impact our health. These small changes are called DNA variants.

One type of genetic testing is called DNA sequencing, which helps to identify DNA variants. Some DNA variants cause traits in us, like the color of our eyes. Other DNA variants can impact our health, such as DNA variants that cause us to have an increased risk of a particular disease.

Genetic testing looks for DNA variants to figure out a genetic cause or risk for health problems. Knowing if your health problems have a genetic cause, as well as understanding your health risks, may help you and your doctor better understand the prognosis, ensure the appropriate treatments are in place, and learn about potential family planning implication.

You should weigh the risks and the benefits before agreeing to have this test. Risks include:

• Unexpected information may be uncovered by your genomic test. We will focus on what is useful to you and provides you the best health care. However, situations such as non-paternity, adoption and unexpected risks or diagnoses could be recognized when your information is viewed along with genetic information from other family members.
• Genetic testing can have emotional effects, especially when a DNA change is found that may predict a serious disease. Genetic counselors are trained to help you understand and process those emotions and your options.
• Some people are concerned about having their genetic information revealed for others to use against them. Since this test is a clinical test, the results stored in your health record are protected by health information privacy laws, especially the Health Information Portability and Accountability Act (HIPAA).
• During the consent process, you will have the opportunity to discuss the risks of having your genetic information stored in your health record, the laws that currently prohibit genetic discrimination in certain businesses and their limitations.

Physicians or Providers can go to the Invitae page for information about genetic testing and program eligibility.

Please visit IDyourPID for more information about genetic testing regarding congenital neutropenia and other primary immunodeficiencies, like WHIM syndrome.

If you would like to share your provider’s information our team can ensure that we will send your physician copies of the visit summary and test results. Please contact our support team after registration at 877-688-0992 or clinical@genomemedical.com. You can also let your genetic counselor know you would like your physician to get a copy of your summary and/or test during your visit.

You can schedule an appointment at your convenience, generally within 1-2 business days.

During the pre-test consultation, you’ll meet with a Genome Medical board-certified genetic counselor via video or phone to discuss your condition (or that of someone for whom you provide care). The genetic counselor will answer any questions you may have, collect a personal family health history, and confirm that you or someone for whom you provide care qualifies for no-cost, sponsored testing.

Prior to your scheduled consultation, it would be helpful to think about the reasons for pursuing testing, and if you have any concerns regarding your family history that you were hoping to address. Please try to find out as much information as you can about your (or someone for whom you provide care) family health history before the appointment and share that information with the genetic counselor.

During your post-test consultation you will meet with a Genome Medical board certified genetic counselor via video or phone. Your genetic counselor will:

• Review your genetic test results and personal and family history
• Provide a clear understanding of what your results mean for you and your family
• Develop a clinical action plan for your ongoing care that you can share with your physician
• Share recommended next steps

In most cases, test results will be available in approximately 2-3 weeks.

Genome Medical will contact you via email or phone once your results are ready. At that time, we encourage you to schedule a post-test consultation to review the test results to better understand what the results mean for you and your family.

Once the tests are complete, we will provide you with a written summary of your test results and guidance on any actionable insights, including how you and your family’s doctor can integrate results into medical care.

A positive result means that a genetic change associated with the disease has been found. Depending on the gene, this result may have a small or large impact on your risk of disease. A negative result means that no genetic change associated with the disease has been found.

A negative result does not completely eliminate the chance that you have an inherited risk for a disease, it simply means that we were not able to identify a genetic risk factor based on the genes tested at this time.

A variant of uncertain significance (VUS) is a genetic change which has uncertain meaning. While some genetic variants are considered harmful, or disease-causing (also called pathogenic), other variations in genes are considered non-harmful and do not cause a genetic condition (also called benign). A VUS means that there is not enough available information regarding a particular variant to know if it is disease-causing or not. Generally, medical management and family risk assessment should not be based on a VUS test result. This type of result cannot independently confirm or provide a diagnosis. While it’s common for a variant to be considered a VUS at the time of a person’s genetic test report, it is possible that more information/evidence regarding the variant may become available over time, as more individual’s have genetic testing including the gene and potentially more research is published. Your genetic counselor can review any additional pertinent details about a VUS on your test report in relation to your medical and family history details.

If results are negative, we will send you a letter, a clinical action plan, detailing your results. A follow-up consultation is available if you have questions regarding any of the test results.

We recommend sharing your test results with your physician so that the physician can manage any recommendations regarding the results. Your physician can also contact Genome Medical if there are any questions regarding the recommendations or results.