Improve genomics to study and treat disease

Improve genomics to study and treat disease

Genome sequencing can help us better understand, diagnose, and treat diseases. For example, healthcare providers are increasingly using genome sequencing to diagnose rare genetic diseases, such as an increased risk of breast cancer or pulmonary artery hypertension, which are estimated to affect about 8% of the population.

Applying technology and expertise to the field of genomics. Following are the latest research and industry developments created to help quickly identify genetic diseases and promote cross-ancestral genomic testing equivalence. This includes an exciting new partnership with Pacific Biosciences to further advance genomics technology in research and clinics.

Help identify life-threatening illness when it comes. Genetic diseases can lead to critical illness, and in many cases, timely identification of the underlying problem can enable life-saving interventions. This is especially true in the case of newborns. Genetic or congenital conditions affect nearly 6% of births, but clinical sequencing tests to identify these conditions usually take days or weeks to complete.

A method – called PEPPER-Margin-DeepVariant – that can analyze data for Oxford Nanopore sequencing, one of the fastest commercial sequencing technologies in use today.

Used this method to identify the suspected disease-causing variant in five critical newborn intensive care unit (NICU) cases. In the fastest case, the possible disease-causing variant was identified less than 8 hours after sequencing started, compared to the previous fastest time of 13.5 hours. In five cases, the method influenced the patient's care. For example, the team quickly reversed the diagnosis of a Poirier-Bienvenu neurodevelopmental disorder for one infant, allowing for timely treatment of the specific disease.

PacBio's long-read HiFi sequencing provides the most comprehensive view of the genome, transcriptome, and epigenome. Using PacBio technology in combination with DeepVariant, our award-winning variant detection method, researchers have been able to accurately identify diseases that are difficult to diagnose with alternative methods.

Supporting more equitable genomics resources and methods

Develop better resources for individuals of African descent, and we worked with the UCSC Genomics Institute to develop a pangenome method with this work recently published in Science. In addition, we recently published two open-source methods that enhance genetic discovery by more accurately identifying disease labels and increasing the use of health measures in genetic association studies.

We hope that our work developing and sharing these methods with people in the field of genomics will improve overall health and understanding of biology for everyone. Working closely with our collaborators, we can apply this work to real-world applications. Chronic disease conditions such as cancer and heart disease, plans for the future may also include examining factors that may affect the course and severity of the patient's illness

Being in the early days of understanding the long-term implications of this disease and by more fully tracking the journey of patient care within the NorthShore healthcare system, combined with insights from our information-based genomic analysis, we can explore how the disease affects various people over time and inform treatment options.

In addition to improving clinical care, the organization aims to make genomics more accessible through programs. Furthermore, health systems aim to better understand the barriers to accessing genomic care, including cultural perceptions, social determinants of health, and financial barriers.  

Apply machine learning to maximize the potential for sequencing data

Going forward, new sequencing instruments could result in dramatic breakthroughs in the field. We believe machine learning (ML) can further unlock the potential of this instrument. Our new research partnership with Pacific Biosciences (PacBio), the developer of the genome sequencing platform, is a great example of how Google's machine learning and algorithm development tools can help researchers unlock more information from sequencing data.

In addition, Develop a new open-source method called DeepConsensus, which in combination with the PacBio sequencing platform, results in a more accurate read of the sort data. This increased accuracy will help researchers apply PacBio technology to more challenges, such as the completion of the Human Genome and genome assembly of all vertebrate species.

Like other fields of health and medicine, the field of genomics grapples with health equity issues that, if left untreated, can exclude certain populations. For example, most participants in genomic studies have historically been of European descent. As a result, the genomic resources that scientists and clinicians use to identify and screen for genetic variants and to interpret the significance of these variants are not equally strong across individuals from all ancestors. In the past year, we have supported two initiatives to improve genomic methods and resources for underrepresented populations.

In addition, Develop a new open-source method called DeepConsensus, which in combination with the PacBio sequencing platform, results in a more accurate read of the sort data. This increased accuracy will help researchers apply PacBio technology to more challenges, such as the completion of the Human Genome and genome assembly of all vertebrate species.