10 Ways Genetic Laboratories Can Support the Rare Disease Community

Rare diseases are not as rare as one might think—there are more than 6,000 identified rare diseases affecting over 300 million people worldwide. Over 70% of rare diseases have a genetic cause, and as a leading commercial laboratory, we understand the important role we play in the rare disease community. Every day, we provide genetic test results based on cutting-edge science and deliver them with care.  

However, our commitment to the rare disease community goes beyond the day-to-day delivery of results. In this guide, we'll explore ten important ways genetic laboratories can support the rare disease community. From diagnostic advancements to policy advocacy, these actions can alleviate the burdens these diseases place on affected families, while also pushing the boundaries of what's possible in terms of treatment and understanding. 


The rare disease community is a broad, interconnected network of patients, caregivers, advocates, and healthcare professionals, all striving for recognition, resources, and ultimately, effective therapies and cures. Genetic laboratories are uniquely positioned to drive substantial change within the community. By making connections, sharing knowledge, and driving new discoveries, genetic laboratories have the potential to improve patients' lives. 

1. Committing to Clear Answers through Innovation 

Genetic testing has the potential to provide answers for people affected by rare disease, who often face long journeys to a diagnosis. Genetic laboratories should be committed to adopting new technologies in a thoughtful, responsible way. Investing in research and development that uncovers new genetic markers and clarifies the relationships between genes and disease can improve the clinical utility of genetic testing. By continuously innovating, labs can better serve patients and their physicians, ensuring that diagnoses are both timely and accurate.  

Here at Ambry, our commitment to innovative technologies is evident by our long history of firsts in service to the genetics community. We were the first commercial lab to offer next-generation sequencing panels and exome testing services. We were the first to offer paired RNA and DNA testing for hereditary cancer. We were also the first to invest in the building of a super lab, ensuring highly accurate test results and increased efficiencies, and the first to self-fund a platform designed to openly share our data in a mission to understand disease better. Today, we continue to invest in active research and development programs that will drive the next innovations in testing services.  

2. Ensuring Genetic Testing Accessibility 

Recent advancements have made genetic testing one of the most powerful tools in the diagnosis and understanding of rare diseases. However, this power is only beneficial if the tests are accessible to the patients who need them. Genetic laboratories must commit to creating and maintaining programs that ensure tests are affordable for all patients. By offering equitable access to genetic testing, labs can be instrumental in early detection and improved management of rare diseases. 

Ambry’s billing practices are designed to make the genetic testing process as easy as possible for patients and healthcare providers. We provide support through medical necessity reviews, cost estimates for patients, fair patient-pay rates for those who are uninsured, and a Patient Assistance Program that considers the individual circumstances for every family that applies. We also know that genetics is, by definition, a family affair. When we identify a disease-causing variant, we offer cascade testing for relatives at-risk for 90 days at no additional charge. 

3. Collaborating for Gene-Disease Discovery 

Our knowledge of genes and their associations with disease continues to grow. We know that of the estimated 20,000 genes in the human body, less than 20% have an established association with disease. Furthermore, even the most comprehensive analysis performed today through exome and genome sequencing provides answers for about 1 in 3 people who undergo testing. Genetic testing laboratories can often serve as key partners in connecting patients, healthcare providers, and researchers to drive new gene-disease discovery. 

Since 2016, Ambry Genetics has actively collaborated in this work through involvement with GeneMatcher. We published our 5+ year experience in the medical literature, which highlighted how this work contributed to the identification of over 100 new gene-disease relationships. We remain committed to high-quality submissions to GeneMatcher and take an active role in connecting stakeholders for new gene-disease discovery. In addition, we’re the only lab with a peer-reviewed publication describing reporting of candidate genes to aid in gene discovery (PMID: 28106320), and the only lab with a published gene scoring system (PMID: 28106320).  

4. Recruiting for Patient Registries and Advocacy Groups 

Recruiting patients for rare disease research remains a significant challenge. Patient registries and advocacy groups are crucial stakeholders for building and consolidating datasets that drive understanding about the clinical features, natural history and variability of presentation in genetic conditions. Genetic laboratories, which have large cohorts enriched for patients with rare diseases, can play a role by facilitating the recruitment of patients into these registries, both for those with a diagnosis and for those still searching for answers.  

Ambry partners with several organizations, including Simons Searchlight and the Undiagnosed Diseases Network, to increase awareness of opportunities to participate in research. We include information about rare disease patient advocacy groups, genetic counseling, and support for siblings with each exome test report we issue.  

5. Publishing Research 

Sharing findings and data is a foundational principle of scientific advancement. Genetic laboratories must contribute to the body of knowledge about rare diseases by publishing their research. This not only disseminates critical information but also fosters collaboration and improvement within the field. 

By making their data and methodologies transparent, labs can create a collaborative environment that accelerates discovery. They can also strengthen their reputation as leaders in rare disease diagnostics and research. Ambry has published over 400 peer-reviewed papers, and actively participates in sharing new research at professional conferences through platform presentations, scientific posters, and sponsored talks. We also make every effort to ensure that our publications are available with open access.  

6. Committing to Data Sharing Practices 

In addition to formal publications, genetic laboratories can support the rare disease community by participating in data-sharing initiatives. Collaborative databases and open-access repositories are vital tools for researchers and clinicians seeking to understand more about rare conditions. 

By contributing to and utilizing these shared resources, labs can provide their colleagues with the anonymized raw material needed for analyses that can lead to breakthroughs. On a patient level, sharing this data can have meaningful impact on variant classifications and the difference between an uncertain result and a diagnostic one. This approach treats information as a collective asset, rather than proprietary knowledge, and paves the way for more inclusive and actionable research. 

At Ambry, we committed to data-sharing from the start and have been unwavering in our support and participation. We’re among the top contributors to ClinVar and not only contribute to but also serve on the steering committee for GenCC. We also participate in many other ongoing collaborations with top-tier research institutions.  

7. Partnering for Drug Development 

Collaboration is key to progress in the rare disease space. Genetic laboratories have unique data and insights that can be invaluable in pharmaceutical research. Labs can help set clinical trials up for success by helping to recruit for natural history studies. Partnerships with drug developers can lead to the discovery of new treatments and therapies specifically tailored for rare disease patients. 

These collaborations can take many forms, from participating in clinical trials to joint ventures in drug discovery. Labs that engage in these relationships can change the trajectory of patient outcomes and contribute to broader progress in the field of rare diseases. Learn more about our pharma services here.  

8. Providing Expertise through Involvement with Professional Organizations and Guideline Committees 

The high volumes of patient and genomic data that laboratory scientists engage with make them uniquely positioned as subject matter experts. Another way genetic laboratories can support the rare disease community is by offering their expertise to shape and standardize the way rare diseases are diagnosed and treated. Participation in professional organizations and guideline committees allows lab experts to contribute their perspectives, standards, and best practices to the broader healthcare community. By having a seat at the table during the authoring of diagnostic and treatment guidelines, labs can ensure that rare disease patients receive care based on the latest evidence and consensus in the field.  

Experts who work at Ambry Genetics regularly volunteer their time to provide thought leadership and resources with a variety of national and regional organizations. At last count, our employees are active members or leaders in 100+ organizations, including the American College of Medical Genetics and Genomics, the National Society of Genetic Counselors, the Association of Molecular Pathology, ClinGen, and the National Academy of Sciences.  

9. Supporting Access to New Answers through Proactive Evidence-driven Reanalysis  

For comprehensive testing with exome sequencing, the diagnostic yield is limited by whatever our understanding is at the time testing is performed. An initial test result is a snapshot in time, and while an exome performed today is better than an exome yesterday, it’s not as good as an exome tomorrow. One way of “future-proofing” results is providing support for a no-cost proactive reanalysis, like what we offer through our Patient for Life program.  

Scientific studies demonstrate that many patients tested with exome sequencing will have a negative or uninformative result at the time of initial testing. In the Patient for Life program, when a new gene-disease relationship is discovered, we review all prior exome-based tests and identify patients where a reclassification is warranted. One of our genetic counselors contacts their provider to discuss the updated report and address any questions. Through Patient for Life, we’ve been able to provide answers for an additional 1 in 20 (5%) of patients. Patient for Life provides reassurance to both healthcare providers and patients and families that we will continue to search for answers for those who remain undiagnosed. We will not give up until all patients receive a diagnosis!  

10. Hosting Continuing Education and Training 

The pace of innovation in genetics is rapid, and staying current is a challenge for professionals across the field. Genetic laboratories must invest in the ongoing education and training of their staff to ensure that they stay at the cutting edge of rare disease research. 

This commitment to professional development can take many forms, from in-house training programs to partnerships with academic institutions. By nurturing a knowledgeable and agile workforce, labs can maintain their role as leaders and contributors to the rare disease community. 

Here at Ambry Genetics, we host virtual continuing education programs through EducateNext webinars and Case Café case conferences. We also participate every year in over a dozen national educational conferences and many more regional and local events, where we sponsor exhibits, presentations and submit new scientific research as posters and platform presentations.  


Genetic laboratories should be more than just diagnostic facilities; they can be catalysts for change and progress for those affected by rare diseases. As our understanding of genetics expands, so does the opportunity for labs to make a meaningful impact on the lives of millions of individuals impacted by rare disease worldwide. 

By embracing accessibility, accuracy, innovation, and collaboration, genetic laboratories can ensure that their work provides hope for the rare disease community. Together with the community of patients, family members, healthcare providers, researchers, and policy makers, we can look forward to a future where rare diseases are better understood, more effectively diagnosed, and more successfully treated. 

This is a call to action for genetic laboratories serving the rare disease community. These ten initiatives represent a significant, actionable roadmap for enhancing the role labs play in supporting those with rare diseases. Let us move forward with a shared commitment to these actions, driving change and creating a better future for all involved. 

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Kelly D. F. Hagman, MS, CGC

Kelly D. F. Hagman, MS, CGC

Kelly Hagman, MS, CGC, is the VP of Medical Affairs at Ambry Genetics. Prior to Kelly’s 20 year career in molecular diagnostic laboratories, she spent several years in a research lab studying DNA mutagenesis and sequencing technologies. She started her career as a genetic counselor at the Molecular Diagnostic Laboratory at City of Hope, where she continued her involvement in research and is the primary author on one of the most highly referenced Li-Fraumeni Syndrome (LFS) papers (Gonzalez et al, JCO 2009 PMID: 18632684). Driven by her passion for new and emerging molecular technologies, in 2009 Kelly joined Ambry Genetics as the Director of the Genomic Services Division where she gained expertise in multiple sequencing platforms and DNA/RNA enrichment techniques. In 2011, she lead the launch the very first commercially offered diagnostic exome sequencing test on the market. Her passion for molecular technologies led her to co-found NSGC’s Genomic Technology Special Interest Group (SIG). She was selected as NSGC’s liaison to the Association for Molecular (AMP) for their NGS Germline Variant Confirmation working group. Kelly is also a firm believer that the best patient care is achieved through open data sharing. She has more than 50 peer-reviewed publications in molecular genetics and genomics, most focusing on exome sequencing (www.ncbi.nlm.nih.gov/sites/myncbi/1rGP7EbZoVMAS/bibliography/48799477/public/).


The information, including but not limited to, text, graphics, images and other material contained on this blog are for informational purposes only. The purpose of this blog is to promote broad understanding and knowledge of various health topics. It is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health care provider with any questions you may have regarding a medical condition or treatment and before undertaking a new health care regimen, and never disregard professional medical advice or delay in seeking it because of something you have read on this blog. Ambry Genetics Corporation does not recommend or endorse any specific tests, physicians, products, procedures, opinions or other information that may be mentioned on this blog. Reliance on any information appearing on this blog is solely at your own risk.