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The benefits and challenges of mainstreaming genomics and precision medicine

The benefits and challenges of mainstreaming genomics and precision medicine

10/12/2020    |    0 min read

The Benefits and Challenges of Mainstreaming Genomics and Precision Medicine

Increasing the availability of genomic analysis across the entirety of the healthcare system promises a number of key benefits that will unlock improved patient care through precision medicine.

Ahead of this year's Enabling Genomic Medicine 2020: Mainstreaming Genomics, we spoke to a number of industry leaders to find out their thoughts.

Those experts included:

  • Michael S. Phillips, Chief Scientific Officer, Sequence Bio
  • Tessa Homfray, Consultant in Medical Genetics, NHS St George’s Hospital
  • Nick Lench, Chief Scientific Officer and Andrea Haworth, Head Scientist - Rare Disease, Congenica
  • Miriam León Otegui, Head of Clinical Analysis, Veritas Genetics

Genomic testing will provide families with vital information and answers

According to Michael Phillips, enabling widespread access to genomic data will result in a truly remarkable paradigm shift from reactive medicine as practiced today, to prevention through early diagnosis and the selection of optimized medications and targeted treatments.

Andrea Haworth agrees and adds that patients will particularly benefit from pharmacogenomics testing that will enable doctors to prescribe optimal medications at the correct dose at the correct time, minimizing adverse reactions – a critical aspect for therapies in both a cancer or non-cancer setting. Pharmacogenomics can also provide information to predict harmful drug-drug effects which can occur in patients who are taking many different medications, such as the elderly.

Genomic testing embedded within patient care pathways should also ensure rare disease patients and their families will benefit from a much shorter diagnostic odyssey as they can receive an earlier diagnosis and personalized earlier interventions (therapies, screening, surveillance, social support).

Genomic testing will provide families with vital information and answers as to why their child/sibling/parent is affected and what to expect. Timely diagnosis will allow access to non-medical resources such as educational support, counselling, occupational therapy and community support from one of the many rare disease associations and parent groups.

All the experts agreed that healthcare systems will need to ensure equity of access to appropriate predictive, diagnostic and prognostic tests for patients within a clinically relevant timeframe. As Andrea Haworth elaborates genomic tests and analytical platforms will need to support clinicians and scientists in providing high quality standardized patient reports.

Understanding genetics is the key challenge

The key task in the interpretation of exome data is the identification of causal variants from countless candidate variants. Even after this has been done it remains a major challenge for our experts and mainstream physicians to understand all aspects of genetics. Few people, even doctors have a deep knowledge of genetics says Miriam León Otegui.

Michael Phillips adds that his experience with some clinicians is that they are cautious and can sometimes be wary of change. Regulatory bodies are also often cautious about the use of genomic information in healthcare. Tessa Homfray also highlights it is often difficult to access testing even for geneticists, and the speed of receiving the results and seconds the difficulties of their interpretation.

One reason for these challenges is, as Nick Lench points out, that access to genetic testing can be difficult to navigate; historically, clinical genetics has been the gate keeper to testing. Providing mainstream clinicians with the tools and funding to access and order genetic testing is therefore crucial.

Ironically, the increase in the number of patient diagnoses has also resulted in increased pressure on the physicians and genetic counsellors returning results to patients, explains Andrea Haworth from her clinical team lead experience.

As DNA sequencing becomes quicker, better and cheaper the key challenge we face in scientific and clinical practice is that genomic data is large and complex, requires expert bioinformatic knowledge to process efficiently and accurately and clinical and scientific expertise to interpret the data in the context of clinical information. This presents a bottleneck in the process as these expert resources are limited.

Looking ahead, Andrea Haworth anticipates that understanding the nuances of genomic data and the implications of the final clinical report can be even more challenging for mainstream healthcare professionals, which represents a significant obstacle to mainstreaming genomics across healthcare.

Training and educational support in genomics will be essential for healthcare professionals

Our industry leaders unanimously agree that more education in genetics for all healthcare professionals is needed. This includes training both the current workforce and embedding genomics into undergraduate medical and healthcare training, says Andrea Haworth.

It is important to provide improved access to education on the benefits of precision medicine to healthcare professionals and patients. Michael Phillips suggests using published facts-based data and designed proof of concept implementation studies to demonstrate improved outcomes and potentially cost savings to patients and healthcare systems.

Nick Lench stresses the importance of making the process simpler and providing mainstream specialties with the information needed.

Greater access to testing would be helped by more dedicated scientists analyzing the results in close collaboration with clinical colleagues. According to Tessa Homfray, close cooperation between labs and teams is essential. Only by the national and international collaboration of experts we will get accurate data about which variants cause disease and which ones don’t. For example, there is an expert network of 4 UK labs analyzing cardiac variants who collaborate closely to try and resolve difficult patient results.

Experts are always going to be a limited resource across all healthcare settings, expects Andrea Haworth. IT platforms and Clinical Decision Support systems which can operationalize and standardize genomic analysis will therefore underpin our ability to scale provision of high-quality genomics services into mainstream settings.

Read the next article in the series

The importance of improving the efficiency of genetic analysis


Curious to Learn More?

Watch our free virtual seminar Enabling Genomic Medicine 2020: Mainstreaming Genomics on demand and learn from global experts at the forefront of precision medicine, covering the latest innovations and best practices in genomics.

Watch the free virtual seminar