Genomic sequencing
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Genomic research has rapidly evolved in the past few years, raising the bar for diagnosing and screening diseases. However, we couldn’t see the same progress in implementing genomic programmes into national healthcare systems.

Genomic medicine is built on the monumental achievement of sequencing the human genome. It encodes the genetic instructions for human physiology. In other words, this is the actual blueprint that tells us how to build a human. 

The first nearly-complete genome sequence was reported by the Human Genome Project in 2003, completed at an estimated cost of $2.7 billion (International Human Genome Sequencing Consortium, 2004). The medical discovery came with setting high expectations on transforming diagnostics and treatments as we know them. However, the progress in implementation into routine care is lagging behind. 

Genomic sequencing has advanced a number of medical areas.

The practical applications of the technology are widespread in the field of medicine. Genomic-driven drug discovery is based on finding effective drug targets and predicting their side effects. This method can increase clinical trials’ success rate, decreasing the ever-rising drug discovery costs. In addition to single-gene target identification, finding multiple-gene combinations as therapeutic targets has also been of interest.

The same approach can be applied to drug repurposing, a strategy for finding novel indications for approved drugs. The existing drug requires less clinical trial cost for testing the safety than developing and implementing novel drugs.

Genomic associations have also stretched the boundaries of personalised medicine. When genetic associations are identified for certain drug responses, like adverse events, drug efficacy or toxicity, clinicians can adjust dosing or change the treatment before it would negatively affect the patient. A bespoke drug treatment therapy based on genetic testing can prevent adverse events for patients with at-risk genetic variants.

Lastly, genomic sequencing provides an unprecedented ability to make an accurate diagnosis and differentiate specific subtypes of a particular disease. Currently, genomic screening is used in some common chronic diseases and cardiovascular disorders for diagnosis, prognosis and individualised treatment.

Despite progress in the field of genomic screening, evidence-based screening programmes are not yet implemented on a wide scale.

How AI is used in genomic sequencing.

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Chapter 10 discovers how AI is used to analyse genetic data before its direct clinical application. 

Have we paved the way for clinical practice? The obstacles to large-scale implementation.

A research article conducted an evidence review to reveal the obstacles to the large-scale implementation of genomic research programmes. While inconclusive evidence of the clinical utility of genomic data is still a challenge, this was only one of the factors identified by the study.

  • The high costs of implementing and integrating genomics into standard care also affect the uptake. While the costs of genomic sequencing have dropped substantially in the last decade, system-wide changes required for scaling involve significant costs as well as human resources. Running genomic tests and analysing them is still costly, and accounting for the time and staff needed to provide training and counselling creates a hike in expenses.

    Economic studies examined the cost-effectiveness of genomic programmes to quantify and justify their value. Despite that, most countries are reluctant to commit to their long-term funding. Without public funding, a national adaptation remains a distant goal in many places. (However, the UK is an exemption. The NHS has adopted a national genomic healthcare programme funded by the British government. Whole genome sequencing (WGS) is now available along with other genomic tests for chronic and certain rare diseases with equitable access.)
  • The lack of genomic-specific training was also raised as an issue. Healthcare personnel is not familiar with the practical applications of the new technology. Raising genomic literacy with continuous and comprehensive education is a cornerstone for sustainable integration.
  • In most countries, digital tools for genomics are not yet integrated with electronic health records (EHR). This makes it cumbersome to include genomic data in diagnostics and treatment, increasing the odds that physicians will ignore the available information. 

Adoption remains a challenge until we make significant progress in all these areas. Neither education nor appropriate integration into national healthcare systems can be ignored if we want to see the routine application of genomic screening.

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Genomic startups might challenge the status quo.

Overcoming these obstacles is not a small task. A myriad of healthcare and technology startups are working on bridging the gap between genomic research and clinical practice. There are more than 1,200 genomic startups in the world, according to CB Insights, more than half of which are based in the US and only 5% in the UK. Nothing indicates the potential and faith invested in the technology better than the nearly $50B total funding these startups received from investors.

The translation of genomic discoveries into medical practice is still a challenge but one that is worth solving. It is clear that a single magical tool will not tackle it. We must endeavour a synchronised and systematical change of the traditional healthcare system that will make it data-led and patient-first.

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