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How Accessible Genetic Testing is Making a Big Difference for a Small Patient Population

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This content is sponsored by Pharming Healthcare, Inc

By Anurag Relan, MD, Chief Medical Officer, and Heather McLaughlin, Senior Director, Molecular Diagnostics – Pharming Healthcare, Inc

For patients with inherited immune deficiencies, also known as primary immunodeficiencies or inborn errors of immunity, a genetic test may be a critical step on the journey to effective treatment. Correctly diagnosing a patient with these conditions can sometimes seem like an insurmountable challenge, with over 400 different inherited immune deficiencies identified to date and patient symptoms potentially pointing to any number of them or even other conditions. Patients with inherited immune deficiencies can suffer an array of sometimes debilitating symptoms, yet may never receive the treatment needed to address their condition simply because they have not been diagnosed accurately or there are no treatment options.

For many inherited immune deficiencies, a genetic test can provide the much-needed definitive diagnosis and clear the path to managing their condition. Patients that may benefit from a genetic test, however, may not always have ready access to testing. Several factors may contribute to the lack of access. For instance, insurance may not cover the test and patients may not be able to bear the cost; insurance that does cover the test may implement burdensome conditions for coverage; the test may be offered by only a limited number of clinical laboratories; or healthcare providers may lack awareness of the potential condition or the appropriate test to order. For progressive inherited immune deficiencies, a delay in accessing treatment can adversely affect the course of disease progression, sometimes significantly.

Understanding the Challenge
Pharming Healthcare, Inc is dedicated to developing precision medicines for the treatment of rare diseases, including inherited immune deficiencies. One area the company is focused on is activated phosphoinositide 3-kinase delta syndrome, otherwise known as APDS. APDS is a rare progressive condition that causes both immune deficiency and immune dysregulation.1

Through its research and testing, the company has seen the challenges that some patients with APDS have faced in obtaining an accurate diagnosis and the impact that delayed access to treatment can have. APDS results from genetic variants in either 1 of 2 identified genes known as PIK3CD or PIK3R1, which are vital to the development and function of immune cells in the body. Awareness of APDS is limited – the condition and its cause were first characterized in 2013. Symptoms are highly variable across patients, making diagnosis without testing difficult.1 Symptoms can include frequent and severe respiratory and herpesvirus infections, swollen lymph nodes, spleen and/or liver, bronchiectasis, autoimmune or autoinflammatory conditions, developmental delays, gastrointestinal tract issues, anemia and other cytopenias and lymphoma.2 It has been reported that patients with APDS have experienced a delay of 7 years from the first emergence of symptoms to an accurate diagnosis.1 On that journey, without a definitive genetic test, these patients have been often incorrectly or incompletely diagnosed with primary immune deficiency, common variable immune deficiency, or combined immune deficiency.1

Meeting the Challenge
Pharming, like other manufacturers of drugs indicated for rare genetic conditions, has responded to the challenges experienced by patients with APDS and their healthcare professionals by taking action to increase awareness of APDS and enhance access to the genetic testing that can help healthcare providers diagnose APDS. Pharming hosts an educational website, AllAboutAPDS, that provides information about the condition as well as resources on treatment for the condition. Pharming also sponsors navigateAPDS,3 a genetic testing program that provides genetic tests and associated genetic counseling to eligible individuals at no cost. Information about the genetic testing program is available on the Pharming website, while Pharming personnel share the information with healthcare providers to increase awareness.

Standard genetic testing panels that can indicate APDS as well as other inherited immune deficiencies and conditions are available through navigateAPDS. A patient is eligible for the no-charge genetic testing and genetic counseling so long as the patient resides in the US and Canada and meets certain clinical criteria that indicate that the patient may be at risk for APDS (or is related to an individual with the relevant gene variants). The patient’s own healthcare provider determines if the clinical criteria are met. This genetic testing program is provided entirely free and offers patients and their healthcare providers an additional option for testing. So long as the relevant clinical criteria are met, and a qualified healthcare provider has ordered the test, there is no other condition placed on accessing the test or the test results. Patients and their healthcare providers don’t have to worry about cost, whether the test will be covered by insurance, or having to go through burdensome red tape to get coverage for the test. From its inception in 2021 to date, the program has provided over 6500 tests at no cost to patients and identified 29 patients and family members with the gene variants indicating APDS.

navigateAPDS serves a crucial purpose by providing important information to patients, their treating healthcare providers, and Pharming. Once a patient is tested, the clinical laboratory performing the test releases the test results to the ordering physician or other healthcare practitioner. Those results not only indicate the presence (or absence) of the gene variants specific to APDS but also other gene variants that could indicate other conditions. The testing results can help the healthcare practitioner diagnose the patient and make better informed decisions about the patient’s course of treatment. Insurance companies may also need to see the testing results to make coverage decisions for treatment subsequently ordered, including drug therapy.

Advancing Knowledge
Pharming also receives de-identified test results, as well as information about the patient’s condition and, for some patients, about the ordering healthcare provider. The information can help Pharming better refine the clinical criteria that can indicate APDS and educate ordering healthcare providers about APDS and treatment available for the condition. As APDS has only recently been identified as a distinct inherited immune deficiency, there is still a clear learning curve. Analyzing the information about the patient’s condition and test results helps Pharming identify symptoms and also potential new pathogenic variants for APDS – advancing knowledge about the condition generally. For example, the testing program to date has identified multiple patients whose APDS is characterized by a disease-causing variant never previously published in association with the disease.4 If a patient tests positive for one of the disease-causing variants that indicate APDS and Pharming has information about the ordering healthcare provider, Pharming can reach out to that healthcare provider to offer information about APDS and a potential treatment option. With this information, the healthcare provider is better prepared to make informed treatment decisions for their patients. Pharming, however, does not receive the ordering healthcare provider information for all patients. Effective February 1, 2024, in response to evolving government guidance, Pharming no longer receives ordering healthcare provider information for patients covered under government health insurance programs such as Medicare and Medicaid. These patients can still access tests and test results, but the patients or their healthcare providers will need to reach out to Pharming if they want more information.

Commitment to Patients
Pharming is committed to supporting the needs of unserved patients living with rare diseases. navigateAPDS reflects this commitment and the company is proud that its genetic testing program has been able to help patients with APDS, their families, and other patients move forward on their journey to managing their condition.

Information about navigateAPDS, including Pharming’s sponsorship and information sharing, is disclosed to patients and healthcare providers on the website for the program and on the form that healthcare providers use to order the genetic tests, allowing patients and their healthcare providers to make informed choices. Pharming believes that the ongoing and successful use of the program speaks to the continued need for ready access to genetic testing among patients with inherited immune deficiencies, and Pharming is committed to meeting that need into the future.


  1. Touch Immunology website. Understanding Activated PI3K Delta Syndrome (APDS): A Rare, Progressive Primary Immunodeficiency (PID). Prepared January 2023. Accessed March 11, 2024. https://www.touchimmunology.com/wp-content/uploads/sites/18/2023/01/TMC-5769-touchFEATURE-Summary-Report-FINAL-15Feb2023.pdf.
  2. All About APDS website. APDS Symptoms. Updated in 2024. Accessed March 11, 2024. https://allaboutapds.com/apds-symptoms/
  3. navigateAPDS website. Activated PI3K Delta Syndrome (APDS) is a rare, genetic primary immunodeficiency. Updated in 2024. Accessed March 11, 2024. https://navigateapds.com.
  4. Campbell E, Park N, Morales A. Clinical and Genetic Findings of ˃3,900 Individuals Tested via the navigateAPDS Sponsored Genetic Testing Program. J Allergy Clin Immunol. 2024;153(2):AB143. DOI: https://doi.org/10.1016/j.jaci.2023.11.473.