Andreas Scherer, CEO
The pharma and life science landscape is witnessing a paradigm shift in the way physicians are diagnosing and treating patients. In the Precision Medicine paradigm, genetic makeup of a person is provided to fathom more about the particular individual, including specific diseases, how the person metabolizes drugs and what treatment options are available for the same. Though this is a significant change for pharma companies, there is also a huge possibility to develop effective treatment options. “By better understanding why some patients respond to new or already approved drugs, we will most certainly be able to tailor drug indication and dosage to certain populations to receive the correct treatment and drug dosage,” begins Andreas Scherer, CEO, Golden Helix. Catering to this development, Golden Helix enables pharma companies, researchers and physicians to find associations between diseases and underlying genetic markers.
The company provides resources to conduct large genome wide association studies as well as studying complex diseases leveraging NextGen Sequencing data. Golden Helix offers specific capabilities that allow the efficient screening of patients, which is key for clinical trial admission. The company also offers tools that support the entire clinical diagnosis from sample to clinical report enabling clinicians to diagnose patients effectively.
Scherer elucidates that by leveraging snip array data, researchers today are trying to find candidate genes associated with a disease or trait. For this, the company offers SNP & Variation Suite (SVS) making the task simple without requiring the support of bioinformatics specialist,” Scherer asserts.
Additionally, Golden Helix’s VarSeq software provides a powerful filtering and annotation engine to sift through large variant data sets. Using a chain of filters, the user can quickly narrow down the list of variants, narrowing in on those that are most likely to be connected with the observed phenotype.
Our VarSeq Reports product provides the ability to generate clinical-grade reports
After data import, annotations are automatically applied based on the settings for the currently applied workflow.The Golden Helix team curates a wide selection of public databases and updates these on a regular basis. The company also has cancer specific databases available allowing users to understand the nature of somatic variants.
The company’s VarSeq Reports product provides the ability to generate clinical-grade reports. These reports are fully customizable, containing focused and actionable data. Whereas the VarSeq Pipeline allows for the use of workflow encoded project templates created in VarSeq which locks down quality control and filtering parameters automating the entire pipeline and fulfilling the lab's specific requirements.
Over the years, the company has assisted several pharma and life science organizations in areas from agrigenomic research, human genetic research to pharmaceutical research and development. One instance that shows how impactful Precision Medicine can be is the work done by Golden Helix with Baby Genes a personalized medicine company focused on genetic testing for new borns. It is a standard practice for new borns to be screened for genetic diseases before leaving the hospital to assess for serious medical conditions. “There are children in the U.S. who are not being screened for serious genetic diseases they may have. By the time parents or physicians recognize the condition, often irreparable damage may already have been done,” explains Scherer. Golden Helix’s VarSeq software is instrumental in Baby Genes' testing process.
Moving ahead, the company will continue to strengthen existing products to enable Precision Medicine. Golden Helix’s clinical solution would also evolve in terms of software functionality and scalability. In 2016, the company plans to introduce a new warehouse product that provides the ability to store annotated variant data, along with clinical reports. “We will also increase our outreach to international markets such as Europe, Asia, Australia and the Middle East,” Scherer signs off.