The Ever-Increasing Speed of Genomics

The field of genomics is really important to me because I have a very close family member with a rare disease. I actually studied genomics while I was at university, but it has moved at an incredible pace since then. Today, the human genome has been completely sequenced. And now that process can be done in about two days. Compared to running gels in a lab for years, genome sequencing is an incredibly rapid process.

More Knowledge, More Questions

Digging more into genomics means gaining more and more knowledge about people and populations. And as more people want to know about themselves, they want access to their genomes. The big question, especially for us in the UK, is who owns the genome. People are starting to get access to their genomes, but historically, they haven’t been able to. That is partly because it can be hard to understand what a genome actually shows. How do we help people understand the complexity of their genomes and what their results mean? There’s clearly a need for more educational materials and genetic counseling.

There are also more than a few complex ethical debates surrounding this genomic world, not only around using the data but also around sharing it. For example, can parents allow a child’s genome to be sequenced and then share that genome with researchers while that child is still young? KLAS may be useful here by helping to connect all the players so that we can talk through these questions from all perspectives.

Power to Connect

Patients with cancers and rare diseases especially want access to their genomes for many reasons. People in these groups want to see their own genomes to look at their specific conditions, and they often want to understand the mutations that may have greater or lesser effects related to their conditions.

Because some of conditions are incredibly rare, there are very few people in any one locality that have them. However, globally, there may be groups of people with the same needs and the same sort of mutations in their genomes. It makes sense that these groups would want to connect and work together across different geographies.

Ultimately, many people already engage with groups online that are centered around their specific conditions. With genomes in hand, perhaps these groups could work with charities or third parties that offer support for conditions in order to learn more about the specific genomics of the conditions. The people in these groups could become citizen scientists and work with clinicians and academics in their sector. That in turn should speed up both the research and the gathering of evidence for effective treatments and improve the self-management of both the patients and those that care for them—all with the goal of improving outcomes for individuals.

Precision Medicine

A big hope I have is that we will better be able to judge the efficacy of certain treatments by having patients participate in genomic work and give feedback on treatment outcomes. Today, some medicines cost around $500,000 per year, but those drugs don’t work for everyone. We still don’t always know what factors contribute to treatment failure, but by digging into genomic data, we may find which drugs are effective for which mutations. By utilizing genomic information in such situations, only those that will benefit from an expensive treatment will take the treatment, leading to fewer wasted resources and unintended side effects.

The most exciting thing I have seen in genomics is the emergence of targeted treatments for specific mutations. As genomic research and development gets better and more cost effective, we will be able to create better treatments for smaller groups of people who never had access to them before. There are some very rare diseases that we’ve never understood or mastered, but as we get even faster at sequencing genomes and develop larger reference libraries, we’ll be able to pick up on whether someone’s genome is causing a disease. We will be able to work toward cures or support to help keep individuals as healthy as possible.

The New Horizon

One day, we may be able to sequence the genomes of patients the moment they come into hospitals with a problem that doctors can’t figure out. Clinicians in a center for oncology or rare diseases will be able to order sequencing in their EHR, take a spit or blood sample (normally blood in the UK), get it sequenced, and have the results back quickly, perhaps even during an operation or certainly as part of an inpatient stay. That will lead to interactions that will become increasingly common, including explanations of the genome and other educational materials for patients. In some cases, genetic counseling will be needed. Some of these services may even start to become digital services in which patients will be able to access genomic or genetic counseling online.

Genomic medicine is a new horizon of medicine that is still emerging. But in the last few months, I have also seen two solutions that can take your genome and search it for various genetic markers. These solutions can integrate with EHRs and can allow providers to ask questions based on different parameters. Additionally, some of the work that I’m seeing globally could have the power to change the course for many diseases.

There are treatments for diseases like cystic fibrosis that can actually change someone’s genomic profile in situ. In the future, we may be able to do this for a whole range of genetic conditions that decreases someone’s quality of life. Genomics is one of the most promising developments for everything from rare diseases and cancers to common conditions. We may be able to address diabetes, glaucoma, or macular degeneration if there is a genetic factor that can be observed and linked to a viable intervention. Rare diseases may go from unsolvable conundrums to curable or at least manageable conditions. I don’t doubt that within 10 years, every doctor’s training will include some very serious understanding of genomics because every doctor will be interacting with genomics as part of his or her practice.





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