Press Release Details

Agios Launches Anemia ID, a No-Cost Genetic Testing Program for Hereditary Anemias

Nov 30, 2020

CAMBRIDGE, Mass., Nov. 30, 2020 (GLOBE NEWSWIRE) -- Agios Pharmaceuticals, Inc. (NASDAQ:AGIO), a leader in the field of cellular metabolism to treat cancer and rare genetic diseases, today announced the launch of Anemia ID, a program providing no-cost genetic testing for patients with suspected hereditary anemias. The next-generation sequencing panel consists of more than 50 genes and disorders that are known to cause hereditary anemias, including pyruvate kinase deficiency. Patients with hereditary anemia can face a difficult path to a proper diagnosis, and access to comprehensive diagnostic testing is a common barrier to diagnosis. Receiving an accurate diagnosis enables patients and their physicians to better understand their condition and informs disease management decisions.

“Differentiating among hereditary anemias is extremely challenging, given the wide range of disorders and unspecified or overlapping phenotypes. Having a specific diagnosis is extremely helpful, allowing us to tailor the treatment and management approach to the particular anemia,” said Dr. Geetha Puthenveetil, a pediatric hematologist at Children’s Hospital of Orange County. “Genetic testing, such as the Anemia ID program, is one of the most useful tools we can employ when treating patients with hereditary anemias. Using a simple saliva or blood sample, Anemia ID offers a non-invasive, convenient and no-cost path to diagnosis.”

“We launched the Anemia ID program as a result of our continuing commitment to the hematology communities we serve,” said Jackie Fouse, Ph.D., chief executive officer of Agios. “Anemia ID enables patients and physicians in the hereditary anemia community to receive a no-cost, rapid diagnosis, with the goal of enabling more informed decisions that may mitigate disease impact on quality of life and open up new treatment opportunities for patients.”

Agios launched the Anemia ID program, in partnership with PerkinElmer Genomics, in response to feedback from patients, advocates and physicians about the need for improved diagnosis to inform disease management decisions. Agios plans to work with physicians across the country to educate about the availability of the test. Participating physicians will order a test kit from PerkinElmer Genomics, collect a single blood or saliva sample from the patient and return the kit to PerkinElmer Genomics, which will perform the molecular analysis and provide the clinical interpretation. While genetic testing alone cannot provide a definitive diagnosis, it is used in conjunction with additional clinical data or testing to diagnose the underlying cause of the patient’s anemia. Eligible patients will receive the Anemia ID genetic test at no cost, subject to the program’s terms and conditions.

About Anemia ID Genetic Testing Program for Hereditary Anemias
Agios Pharmaceuticals, in partnership with PerkinElmer Genomics, launched the Anemia ID program to offer no-cost genetic testing to eligible patients in the U.S with suspected hereditary anemias, a group of highly heterogeneous disorders that occur infrequently across the general population.

The goal of the Anemia ID program is to provide a diagnosis confirming the underlying cause(s) of a patient’s hereditary anemia, support the development of an effective management plan, inform genetic counseling discussions and enable the identification of appropriate treatment options or clinical trials. The next-generation sequencing panel uses a single blood or saliva sample to test for more than 50 mutated genes and disorders, including congenital dyserythropoietic anemias, Diamond-Blackfan anemia, enzymopathies (red blood cell enzyme disorders) including pyruvate kinase deficiency, membranopathies (red blood cell membrane disorders) and other disorders with overlapping clinical features.

All testing provided to patients through Anemia ID is paid for by Agios Pharmaceuticals. While Agios provides financial support for this program, all tests and services are performed by PerkinElmer Genomics. Agios receives contact information for healthcare professionals who submit tests under this program and limited de-identified aggregate data.

To learn more about the program, please visit

About Agios
Agios is focused on discovering and developing novel investigational medicines to treat malignant hematology, solid tumors and rare genetic diseases through scientific leadership in the field of cellular metabolism. In addition to an active research and discovery pipeline across these three therapeutic areas, Agios has two approved oncology precision medicines and multiple first-in-class investigational therapies in clinical and/or preclinical development. For more information, please visit the company's website at

Cautionary Note Regarding Forward-Looking Statements
This press release contains forward-looking statements within the meaning of The Private Securities Litigation Reform Act of 1995. Such forward-looking statements include those regarding the potential benefits of the Anemia ID program; and the benefit of Agios’ strategic plans and focus. The words "expects," "anticipates," "believes," "intends," "estimates," "plans," "will," "outlook," "goal", "potential" and similar expressions are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. Such statements are subject to numerous important factors, risks and uncertainties that may cause actual events or results to differ materially from Agios' current expectations and beliefs. For example, a positive opinion on Agios’ application for orphan drug designation for mitapivat is not a guarantee of approval. Management's expectations and, therefore, any forward-looking statements in this press release could also be affected by risks and uncertainties relating to a number of other important factors, including: risks and uncertainties related to the impact of the COVID-19 pandemic to Agios’ business, operations, strategy, goals and anticipated milestones, including its ongoing and planned research activities, ability to conduct ongoing and planned clinical trials, clinical supply of current or future drug candidates, commercial supply of current or future approved products, and launching, marketing and selling current or future approved products; the results of Agios’ clinical trials and preclinical studies, including subsequent analysis of existing data and new data received from ongoing and future studies; the content and timing of decisions made by regulatory authorities, investigational review boards at clinical trial sites and publication review bodies; Agios' ability to obtain and maintain requisite regulatory approvals and to enroll patients and conduct its current and future clinical trials; unplanned cash requirements and expenditures; competitive factors; Agios' ability to obtain, maintain and enforce patent and other intellectual property protection for any product candidates it is developing; Agios' ability to maintain key collaborations; and general economic, market and global health conditions. These and other risks are described in greater detail under the caption "Risk Factors" included in Agios’ public filings with the Securities and Exchange Commission. Any forward-looking statements contained in this press release speak only as of the date hereof, and Agios expressly disclaims any obligation to update any forward-looking statements, whether as a result of new information, future events or otherwise, except as required by law.


Holly Manning, 617-844-6630
Director, Investor Relations

Jessica Rennekamp, 857-209-3286
Associate Director, Corporate Communications

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Source: Agios Pharmaceuticals, Inc.