Identifying Genetic Disorders From Family Photos

Although the area of genomics has not been developing at an exponential rate that experts expected when the Human Genome Project was announced to be completed, more and more ways of potential use of genomic data in medicine have showed how it might transform our lives. A few months ago, it was published that so-called “genetic mugshots” can  be recreated from DNA. By only using a person’s DNA, a face can be generated which sounds like pure science fiction.

Now researchers at Oxford University have developed a computer program that can diagnose rare genetic disorders in children simply by analyzing family photos.

One day we might be able to sequence the genomes of newborns immediately after birth (or even before) to tell parents what major conditions the child might have to deal with in the future. As an additional feature, children without genomic sequences made available could get an instant diagnosis only by looking into the camera of a computer using this algorithm.

An excerpt about how it works:

The program works by recognising certain characteristic facial structures that can be present with certain conditions, including Down’s syndrome, Teacher Collins, Progeria, Fragile X and Angelman syndrome. It combines computer vision and machine learning to scan pictures for similarities to a database of pictures of people with known conditions, and then returns matches ranked by likelihood.


Gentle Sequenced All My Genes

Years ago, I had two direct-to-consumer (DTC) genomic tests. One with Navigenics and one with Pathway Genomics. Both tests gave me great insights about how this industry works and it was really exciting getting a clear picture about them as a geneticist myself. Although, when I saw the FDA-23andMe battle and the results, I was not surprised.

After these, I came across a new company, Gentle, a few weeks ago and had a chance to give a try to their genomic test. Why Gentle? Well, I had a few reasons:

  • They sequence all my genes, not just 1.9% of them as other DTC companies do.
  • They test me for 1700+ conditions (carrier status, from common to rare genetic disorders).
  • They provide revolutionary iOS apps.
  • I can download my raw data and I own it!

The package arrived, and I provided the required saliva sample. The process was quite simple.

fotó 1


With a personal note:

fotó 3


fotó 2


After a few weeks, I got access to my results and I was impressed. Here is the format they used to interpret my data:



I could take a look at my carrier status and it turned out my genome doesn’t really carry anything serious. A color coded circle let me discover the details and for each condition or disease, I could access a more detailed description.



The different layouts allowed me to discover the meanings behind the data in the way I preferred. Here is the chromosome view.



Finally, the genetic counselor scheduled a talk with me about my results and she answered all my questions.

In overall, Gentle told me things about my genome that are backed by scientific evidence; they let me download the raw data and analyze it in my own way and provided me with a lot of details focusing on those carrier statuses. They do everything regulations let them do and they do that by keeping an eye on scientific quality.

Here is a video about the service:

My CNN Article: 10 ways technology will save your life in the future

I was invited to write an article about 10 ways technology will save our lives in the future for and I was happy to do so. It was featured today on the main page of CNN. I hope you will find it useful. Here is the introduction:

The medical and healthcare sectors are in the midst of rapid change, and it can be difficult to see which new technologies will have a long-lasting impact.

Ideally, the future of healthcare will balance innovative medical technologies with the human touch. Here, I’ve outlined the trends most likely to change our lives, now or in the near future.


The Era of the $1000 USD Genome? Not Yet!

When I started my PhD in 2009, the industry of genomics was really loud about the upcoming era of the 1000 USD genome. Then I met George Church at Scifoo organized in Googleplex and he told me the same, it was coming. Meanwhile, I finished my PhD in 2012, then one more year passed and now Illumina announced they have a machine that can sequence an entire human genome for about 1000 USD.

In the past few days, the press has been loud about the era of the 1000 USD genome. Well, did we call it the smartphone era when the first developments related to future smartphones became public? No! We started calling our time the smartphone era when I could walk into a store and buy an iPhone or an Android.

The same goes for the industry of genomics. We will live in the 1000 USD era when I can walk into a lab and have my genome sequenced for less than 1000 USD in days. It’s not here yet, although it’s coming.

Moreover, I don’t think the cost of sequencing your genome will be less than 1000 USD, but totally free!

DNA cubes