With recent announcements of software retirements in the clinical NGS industry, many clinical diagnostic labs are looking for new variant interpretation and reporting platforms to integrate into their current NGS pipelines. With so much competition and seemingly fewer differentiating factors between platforms, it’s hardly surprising when labs are confused and overwhelmed when attempting to choose one software solution over another. Here are five key factors to consider when selecting a new clinical informatics platform.
Make sure your new clinical informatics platform has these five key factors
We understand the challenge of selecting and onboarding a new clinical informatics platform to replace your current software. To aid in your selection process, here are five key factors to consider when choosing a new solution.
1. Experience and stability
When your lab invests in a clinical informatics platform, you want assurance that the commercial provider will support you for the long-term. You need to choose a company and platform that offers experience and stability.
The experience and stability of QCI Interpret and QIAGEN:
- To date, QCI Interpret has analyzed and interpreted more than 3.5 million NGS patient test cases worldwide. This makes QCI Interpret one of the most widely used and universally respected platforms for efficiently accessing clinical evidence to support confident decision-making in genetic testing.
- QCI Interpret is currently growing at 35% or 700,000 additional cases per annum, outperforming other commercial offerings by a factor 5 in terms of patient cases.
- QIAGEN Digital Insights is the premier global provider of informatics solutions. Currently, we have over 90,000 users worldwide, spanning academic institutions, clinical laboratories, public health organizations, biopharmaceutical companies, and country-wide precision medicine initiatives. For example, QCI Interpret was just selected by the Danish National Genome Center to provide variant interpretation and reporting for whole-genome sequencing as the standard of care for the country’s national precision oncology program. Read the press release here.
- QCI Interpret is continuously updated and optimized with annual releases, occurring twice a year. QIAGEN Digital Insights is committed to providing our customers with the best software. We invest in our technology to ensure optimal performance. For example, in the latest QCI Interpret release, the software’s artificial intelligence (AI) capabilities were enhanced to provide full bibliographic coverage of the clinical exome. Learn more here.
2. Trust and transparency
Trust and transparency are “buzzword” in the clinical informatics software market. But what do they actually mean?
When it comes to interpreting and reporting clinical NGS tests for patient care, diagnostic labs cannot afford misinterpreting a variant or returning tests week (sometimes days) after they are ordered. You need to return high quality, accurate reports fast. You need clinical NGS variant interpretation and reporting software that you can trust.
Your ability to trust your clinical NGS variant interpretation and reporting software derives from the content that supports the platform. Many commercial platforms provide automatic variant classifications based on clinical practice guidelines (ACMG/AMP, AMP/ASCO/CAP, etc.). However, it’s how these platforms perform these auto-classifications that’s the differentiator.
For example, QCI Interpret, QIAGEN’s clinical informatics platform, provides evidence to trigger all 28 criteria of the ACMG/AMP variant interpretation guidelines. Once a VCF file has been uploaded to the software, within seconds, QCI Interpret returns evidence categorized into one of the 28 defined criteria set forth by the ACMG/AMP guidelines and assigns a calculated strength of the evidence. ACMG classifications automatically include case-level information, such as inheritance models and relevant findings in associated samples, and if additional information or expertise is available, users can incorporate their data, modify criteria, and store changes for all downstream cases. Users can then view each piece of evidence used in the assessment through clickable hyperlinks that show the full article—not the abstract. This approach ensures the software’s automated variant classifications consider all available evidence; but it also gives confidence in the results because it allows users to view the evidence considered. This added layer of transparency gives users full control over final assessments, which is critical in clinical variant interpretation.
3. Manual curation augmented by AI
This factor coincides with trust and transparency. Curation is a critical component of clinical variant interpretation and reporting. It involves searching through the entire body of medical and scientific knowledge to find the precise information needed to accurately classify and interpret a variant. But with thousands of new articles on human genetic variants being added each week to the over 30 million existing medical articles listed in the National Library of Medicine/MEDLINE/PubMed database, variant curation is a huge bottleneck for clinical diagnostic labs.
To help expedite the process, several commercial informatics providers rely on AI and machine learning to rapidly index the millions of articles to find key pieces of evidence. However, there are significant limitations to pure AI approaches.
Why you can’t soley rely on AI:
- AI cannot take into account the complexity and heterogeneity of genetic variant nomenclatures. This can lead to misinterpretations or missed articles entirely.
- AI suffers from a lack of sensitivity. Most AI approaches only search through article titles and abstracts. Key pieces of information in the body of the article are overlooked.
- AI runs the risk of returning false positives. This is due to the inability of AI to properly determine which gene any given variant cited in an article is referring leading to a decrease in specificity.
However, let’s be clear. AI does afford significant efficiencies in variant curation. Therefore, the gold standard approach is to combine AI with manual curation. At QIAGEN Digital Insights, we employ over 100 expert curators (MD and PhD level) who are certified in clinical variant curation. Our curation team uses AI and machine learning to rapidly extract and identify articles. Then, they manually review the AI-extracted content to ensure consistency and accuracy. Using human judgement and expertise, our curation process ensures every catalogued “finding” has been “touched” by a trained scientist. No other commercial provider of clinical informatics platforms can claim this.
View an infographic of our curation process here.
4. Dedicated customer support
As a clinical diagnostic lab, it’s important to feel supported by your software provider. You need assurance that your provider can support you through onboarding, production, and management. You need a dedicated support team that is responsive and always available to answer questions, trouble shoot problems, and optimize your pipeline.
Each of our QCI Interpret customers receive dedicated localized support from our Field Application Scientist team, who is highly specialized in the field of clinical genetics. You have access to your customer support team at all times and we have the ability to make site visits when needed.
Finally, you need a clinical informatics platform that can be customized to your lab’s unique applications and objectives. QCI Interpret is an agnostic platform that can be paired with any panel or sequencer. Working with your dedicated support team, you can customize your workflows to your panels and reporting needs.
Looking for a new clinical informatics platform that ensures long-term support, trust and reliability?
Make the switch to QCI Interpret, the industry’s most trusted clinical bioinformatics platform—used to analyze and interpret more than 3.5 million NGS patient test cases worldwide.