Ambry is committed to advancing science by continually optimizing our methodology of detecting variants in order to bring you the most comprehensive test results possible.

Arrowhead Pharmaceuticals is researching medicines to determine whether they can effectively treat intractable diseases by silencing the genes that cause them. Arrowhead investigational therapies are being tested to determine whether they can effectively treat FCS patients.

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

The results stored in your health record are protected by a health information privacy law known as Health Information Portability and Accountability Act (HIPAA) and the Genetic Information Nondiscrimination Act (GINA) protects patients from genetic discrimination.

To learn about DNA, it helps to start with our genes. 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.

Genes are made up of chemical building blocks called DNA, abbreviated as “A,” “C,” “T” and “G,” which are spelled in a very specific order to make up a gene. 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 studies the DNA within our genes to look for DNA variants. Some DNA variants cause minor 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 for cancer.

Genetic testing looks for DNA variants to figure out a genetic cause or risk for health problems. Knowing if you have a genetic health risk can help you and your doctors plan for any medical checks or tests you should have to maintain your health, and also about any health risks to your family members.

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 the 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 an individual’s unique 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 your risk for disorders of interest and then reviewing how genetic testing may help you answer them. Their recommendations are tailored to address the issues that are most important to you. If you have questions about your results, genetic counselors are there to explain what it means and work with you to understand best next steps and develop a care plan. You can learn more about genetic counselors here.

Genetic testing is the process of examining our genetic makeup to detect disease-causing mutations. Ambry’s HTG-Select test is a 6-gene panel that analyzes genes associated with FCS. The test can be an effective way of identifying at-risk individuals or clarifying risks to family members, however, genetic testing cannot predict onset or severity of disease.

Ambry Genetics’ HTG-Select panel is a 6-gene test aimed at identifying the underlying genetic cause of hypertriglyceridemia in eligible patients. This includes disorders such as Familial Chylomicronemia Syndrome or other clinically associated conditions. Genes included are associated with one or more key clinical symptoms, including: severely high triglyceride levels, acute bouts of pancreatitis, severe abdominal pain, skin xanthomas, memory loss, and milky appearance of the blood/veins.

Establishing an underlying molecular cause is a critical step in providing accurate diagnosis, prognosis, genetic counseling, and disease management.

Familial chylomicronemia syndrome (FCS) is a severe and ultra rare genetic disease, with a prevalence of approximately 1 in 1,000,000. Patients with FCS are unable to effectively breakdown dietary fats resulting in severe elevations in triglycerides in the blood, which can cause serious signs and symptoms including acute pancreatitis (which can be fatal), chronic daily abdominal pain, type 2 diabetes mellitus, hepatic steatosis, and cognitive issues (aka “brain fog”). FCS is often controlled by severely limiting dietary fat intake, which can reduce the risk of pancreatitis. Pancreatitis is a major life-threatening complication of FCS and can lead to other life-threatening conditions such as sepsis, acute respiratory distress syndrome, hypovolemic shock, and renal failure.

Additional resources for learning more about Familial Chylomicronemia Syndrome:

• Foundation of the National Lipid Association: https://www.learnyourlipids.com/
• Living with FCS: https://www.livingwithfcs.org/
• National Pancreas Foundation: https://pancreasfoundation.org/

As an RNAi focused pharmaceutical company, Arrowhead understands the important role genes can play in rare diseases such as hypertriglyceridemia and FCS. Accessing confidential, trusted, affordable, and timely genetic testing and counseling services can be a challenge for patients and providers for a variety of reasons. By providing no-cost genetic testing, Arrowhead hopes to further demonstrate its ongoing commitment to engagement with the FCS patient and caregiver communities as studies continue to find effective treatments and broaden awareness of this rare, but impactful disease.

The Medicare coverage question is currently required as part of the registration process. If a participant selects they are covered by Medicare, they will be required to complete an ABN form. Medicare will not be billed and both the genetic counseling visit and testing are 100% covered. Patients that elect to participate in this program will not be financially responsible.

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

In most cases, test results will be available in approximately 2-4 weeks.

A clinical action plan (CAP), is provided to you once results are complete. The CAP is a written summary of the results and guidance on any actionable insights, including how you and your family’s physician can integrate results into medical care.

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

We recommend sharing your clinical action plan (CAP) 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.