Genome Sequencing Offers Promise for Children with Rare Developmental Delays and Other Genetic Rare Diseases


For many families, when their child is born with developmental delays, there may be weeks, months, or even years that go by without a diagnosis. During this time, parents may be in limbo—not fully knowing what is going on with their child, if there is a cure, or what the future my hold.

Genome sequencing may hold an answer for many hopeful families and others with rare diseases.

Genome sequencing is a process that figures out the order of DNA nucleotides. Whole genome sequencing is a process in genomics that determines the DNA sequence of an entire genome. This is a process that can help provide diagnosis to people and offer consequential lifesaving treatments.

For families, doing genome sequencing can mean getting information about diagnosis for children who have not been given a diagnosis yet. Many families with children that have delayed development can go a long time without a diagnosis or any answers, and may be told their child simply has “global developmental delays.”

Being given a diagnosis helps families put a name to what they are going through, helps them find others going through similar situations or diagnosis, and lets them know what the future may hold.

Sometimes, a diagnosis can mean finding a suitable treatment for the first time.

In October 2018, NHS England released 13 genomic medicine centers that provide genome sequencing to people who have undiagnosed rare diseases and cancer. This method can allow doctors to know how to effectively treat patients and can save lives.

As scientists learn more about genetics, the benefits of genome sequencing will spread to more than just developmentally delayed children and those with cancer. Other disorders, like early onset dementia and multiple sclerosis could benefit from genome sequencing as well.

DNA sequencing is improving and the process is being performed faster than ever to unearth and sequence an entire genome faster than before in a more cost effective way.

Genome sequencing does have some risks however.

One risk of genome sequencing is that it could have secondary findings, which may prove stressful or upsetting for patients. For example, there is a possibility the testing could detect genetic variants that have nothing to do with the condition it is searching for.

Therefore, while looking for one particular health issue, the testing could pick up a person’s risks of developing other illnesses later in life; some people may want to know this, while some do not.

The 100,000 Genome Project was started in 2012 by the England Prime Minister David Cameron. The Prime Minster has a son with a rare neurological condition. The Goal of the project is to sequence 100,000 genomes from patients with rare disease and cancer.

Since 2012, 75,000 genomes have been completed. Twenty five percent of these tests have resulted in a diagnosis, mostly for families with children with rare diseases.


Read more about genome sequencing and it’s future here.

Follow us