Can you imagine seeing the face of your unborn child at age 18?
Things are moving quickly in the field of genomics.
The first article of this column described the coming Practical Genomics Revolution as evidenced by the creation of 11 genomic medicine centres under the auspices of the 100,000 Genomes projects led by Genomics England.
Now, the initial results are in.
More than 6,000 genomes have been analysed and the project will receive another £250 million in funding in 2016. The project is releasing the first genomes back to participants and with them come diagnoses for two little girls with rare genetic diseases. In total there are an estimated 6,000 rare genetic diseases already described and more awaiting discovery.
Jessica was diagnosed with a known genetic disease, GLUT1 Deficiency Syndrome, which can now be helped through a special diet that will hopefully increase the energy to her brain and halt her epileptic seizures. “More than anything the outcome of the project has taken the uncertainty out of life for us,” said her mother.
When Georgia’s genome was compared to those of each of her parents, a novel mutation was found in a single gene. It could only be inferred at this point, that it causes her poor eyesight, weakened kidneys, dyspraxia and physical and mental developmental delays.
Genomics England has just recruited the first cancer patients. Each contributor will have tumour and healthy cells genome sequenced for comparison. Participants include three sisters all diagnosed with breast cancer within 15 months. Their DNA is of particular interest because they lack mutations in the BRCA genes usually associated with heritable breast cancer.
The 100,000 Genomes Project in England was accompanied by the announcement of the Million Genomes Project in the US, which this year, has been sistered with the vastly larger ‘Cancer Moonshot‘ initiative.
Announced on 13 January by President Obama in his eighth and final State of the Union Address, the multi-billion dollar project will be led by US Vice President, Joe Biden, who has a vested interest in seeing new cures for cancer. His son, Beau, recently died of brain cancer at the age of 46 and Biden’s mission is deeply personal. Biden is encouraging people to come forward and tell their stories.
In Davos, Biden held a panel discussion and called on the international community to double the pace of cancer breakthroughs and end cancer as we know it.
Promising avenues of research and application include the development of vaccines, genetic circuits that modify the physiology of cells, nanotechnology delivery units that directly kill tumors without damaging the rest of the body, and gene-editing.
The panel discussion focused heavily on big data and the need to unify existing stores of data. There are already billion-dollar plus efforts underway to prevent and cure cancer, including the University of Texas MD Anderson Cancer Center’s cancer ‘moon shots’ cancer program and the International Cancer Genome Consortium.
Biden acknowledges that there are many issues to tackle, including privacy, data sharing and the question of “should a person own their own genome.”
He strongly encouraged the breaking up of data silos and the open sharing of data. Genomes are actually the easiest part to digitize the panel agreed, it remains the phenotypic information that is more complex and needs much more work.
Computer algorithms that can transform raw DNA into portraits promise to provide new challenges to the concept of genomic privacy. Using information from genes for eye and hair color and ethnic background, it is possible to generate 3D faces.
While the technology is new and researchers, are finding that DNA for facial features is incredibly diverse, it takes genome sequencing one more step away from anonymous. Craig Venter even says he can determine what your voice sounds like, along with generating a 3D profile of your face.
Since it is possible to sequence the genome of fetal cells circulating in mother’s blood, he even goes so far as to say he can predict what the faces of unborn children will look like at age 18.
The Practical Genomics Revolution promises to roll on in 2016.
Using genomics to cure cancer is being held on par with JFK’s desire in 1961 to land men on the moon.
Featured image credit: Barack Obama, by mikebrice. Public domain via Pixabay.