Headquartered in Portugal, CBR Genomics is a genomic analysis provider with the mission to make DNA-based diagnostics as ubiquitous and accessible as blood tests or X-rays. CBR Genomics believes patients should be the owners of their genetic data, and it offers an innovative genomics-as-a-service model. Through a simple saliva sample, CBR Genomics sequences a patient’s DNA, analyzes it within the scope of an appropriate gene panel that is selected by a medical professional, stores the information securely, compiles a genetic report, and makes the report accessible to a physician or health professional that is authorized by the patient.

Working in the cloud has been an important principle for CBR Genomics since its inception as a company. “Without the cloud services infrastructure that AWS provides, it would be impossible to deliver genetic analysis in a way that is democratized and accessible to people,” says Ana Catarina Gomes, CEO of CBR Genomics. The CBR Genomics business model requires services that provide data resilience, security measures to encrypt and restrict access to data, and processing power to run DNA analyses. Furthermore, CBR Genomics needs its systems to run in compliance with applicable regulations, including the European Union’s General Data Protection Regulation (GDPR) and Portugal’s Personal Genetic Information and Health Information Law.

To align with these regulations, CBR Genomics’ architecture keeps patients’ name and contact information and genetic data in two systems that are physically and logically separated. The only time these pieces of data are brought together is when a medical professional, authorized by the patient, accesses the genetic report to present the results to the patient during a consultation. In this way, the system conforms to Portuguese law and other European legal frameworks, while still letting the individual patients retain ownership of their data by choosing which medical professionals to authorize. “Having our systems on a recognized provider with full credibility—along with the certifications that AWS offers—makes things simpler for us,” says Gomes.

CBR Genomics has a small IT team, so it uses support-based cloud services—such as Amazon Elastic Kubernetes Service (Amazon EKS), a managed service to run Kubernetes on AWS—to augment its team’s capacity. The company also uses Amazon Relational Database Service (Amazon RDS), a collection of managed services that makes it simple to set up, operate, and scale databases in the cloud. Using support-based cloud services reduces the company’s operational overhead. “Basically, every system that we are using right now on AWS is managed by AWS,” says Armando Rodrigues, chief technology officer at CBR Genomics. “Most of the complexity that we would need to deal with, we now don’t need to deal with at all because AWS does it for us.”

Using AWS, CBR Genomics can simply and flexibly scale out its resources to meet customer demand. It can also scale in when its services are not being used—such as nights and weekends when laboratories are closed—to save money and energy. Environmental sustainability is important to the company, so having a scalable solution that doesn’t consume more electricity than necessary is an additional benefit of using the cloud. On AWS, CBR Genomics’s solution has high availability with minimal downtime.

CBR Genomics keeps data as secure as possible and complies with applicable data protection regulations and best practices. Following the Shared Responsibility Model, CBR Genomics makes sure its solutions are in line with security best practices and regulations, while AWS provides security for cloud infrastructure, such as the hardware, networking and facilities where services are run. CBR Genomics uses security features and services on AWS to encrypt and manage access to data and stores data only on AWS Regions in Europe. Additionally, the paperwork for applying for its certifications was simpler because AWS already has important certifications, such as ISO/IEC 27001:2013, for certain services. “The fact that we are cloud based and that AWS is so focused on privacy and security make it simpler for us to be compliant with GDPR,” says Grãos.

The cost savings and efficiency that CBR Genomics attains using AWS help to further its mission of providing genetic data analyses to patients, particularly to babies, children, and young adults, who can benefit most from early detection of potential genetic conditions. Humans have around 20,000 genes, and many known mutations can lead to disease, which doctors can screen for if they have a patient’s genomic data. For example, 10 percent of cancers are hereditary, and 3 percent of type 1 diabetes cases with pediatric onset come from well-established genetic causes. The average genetic condition takes 5 years and seven physicians to diagnose. “Families enter into a diagnostic journey that is very complex and difficult emotionally, socially, physically, and financially,” says Gomes. “If we can shorten these diagnostic journeys, it’s very impactful.”

CBR Genomics is reviewing its architecture using the AWS Well-Architected Tool, a tool used to review the state of applications and workloads against architectural best practices and identify opportunities for improvement. Areas of review include security, cost optimization, and performance, and CBR Genomics is migrating some of its systems to a serverless approach to improve operational excellence while further reducing energy consumption and expenses.

“One in every six people has a DNA alteration that will cause an actionable disease, so if we can bring the costs of these analyses down to an accessible point, we can save lives,” says Gomes. “This wouldn’t be possible without technology systems like AWS that have evolved to make data storage and analysis more affordable.”