Friday, December 13, 2013

23 and Me and

The FDA issued a warning letter to 23andMe on Nov 22, 2013. There followed a slew of articles, posts, tweets and commentary - amongst the many
And this piece on Forbes on the class action suit and this older piece that talked about the service before this news hit and then followed up with this piece "23andMe Saga Doesn’t Bode Well for EMR Genetics Integration" and David Katz: Return to Sender, Genome Unknown: Seven Reasons I Will Return My Personal Genome Kit

Declaration: I am a 23andMe customer - I liked the concept and was excited by the price point that made the service accessible and cost maybe that explains my quick reaction (per the K├╝bler-Ross model of grief of Denial, Anger, Bargaining, Depression, Acceptance) to many of the posts and negative feedback pushing back.

I am still processing the news and not sure exactly where I sit - personally I am glad I got in before the health information was blocked. Maybe this is a purely personal position coming from the privilege of being a physician. In fact this piece on Forbes/Quora: What Do Doctors Think About 23andme?
probably captures the viewpoint I have different from others. In fact the images summarize how many people might approach this
Hmmm - you can see the logic and while the point made that not all information is relevant or important my view is firmly on the side of the patient being allowed to make that decision themselves.  It is always worrying to me that someone else is filtering information and making decisions as to what they consider to be important to me - how can they know?

The example cited is one of a fit healthy individual making a decision based on genetic testing that suggests they might be at increased risk of cardiac disease that needs to be put int he context of them being fit and healthy
In fact they state
This is why every ethical healthcare provider follows this mantra: do not order a test or perform a procedure if it will not change your management of the patient, because doing so may cause needless harm/risk to the patient and will cause needless damage to the patient’s finances.
A reasonable position and one perhaps we might expect the FDA to support.....yet the FDA allows for direct to consumer advertising in the US.....? That seems at odds with the stance taken on genetic testing. There is no doubting that extra testing can cause additional stress and concern - putting everyone into an MRI is a bad idea since we identify around 20% "findings" many (may even be most) of which are incidental. I personally am delighted with my 23andMe results that include genetic details and insights that help me make my own personal health decisions.

I gave up personal genetic information to 23andMe who like any other cooperation could misuse it, may not protect it sufficiently or may share it with insufficient privacy protections to shield me from being identified. But that was my choice and in this instance I felt the risks outweighed the benefits.

But the cynic in me can't help but think that this may all be money related especially given the recent spat over the BRCA gene testing that was recently struck down but remains the tip of the patent iceberg.

This piece on KevinMD: 23andMe and the FDA: Did the government overreach? probably captures my basic views on the subject. As Dr Marroquin states
One worry is that people might undergo unnecessary tests and procedures based on the information 23andMe provides.  For example, critics worry that a woman who is found to have a false-positive BRCA mutation might have a prophylactic mastectomy inappropriately.  This seems to me to be an impractical concern.  It is difficult imagine a surgeon operating in such a situation without first verifying the genetic testing through another lab and extensively discussing the benefits and risks of such an approach with the patient.
Quite - it might create a worthwhile discussion between a patient and their healthcare provider. In another example the risk of Alzheimer's which a customer might feel powerless to prevent but I would suggest that this may not be true in the future and as one friend and colleague told me when he shared his results that showed an increase risk of Alzheimer's:
It just means I am going to play more sudoku as I get older
That seemed like a good strategy and attitude. It is also important to note:
It turns out, however, that people seem to be less psychologically devastated by adverse genetic test results than many of the experts anticipated.  For instance, a study published in the New England Journal of Medicine found that “in sample of subjects who completed follow-up after undergoing consumer genomewide testing, such testing did not result in any measurable short-term changes in psychological health, diet or exercise behavior, or use of screening tests.
On balance I'd rather have the choice than have the government make decisions about what data I can access. I say this with all due respect to my clinical colleagues who may disagree and the many that had exchanges with me in other social media forums.

I would also explicitly state that this is a personal view and does not represent that of my employer nor does it represent clinical guidance.

Friday, December 6, 2013

Peace #Inspiration Love - Nelson #Mandela - I'm a Rainbow Too #tribute

Nelson (Rolihlahla) Mandela or Mandiba as he was know to many

was an inspiration for many with his incredible strength and especially his compassion and moral courage despite his 25 year incarceration. His strength contributed to the Rainbow Nation. In the words of another early lost talent Bob Marley:

I Want you to know I'm a rainbow too

You can take the boy out fo Africa, but you can't take Africa out of the boy. Today I am proud to call myself an African and stand tall with the people of Africa at this time of sorrow

He managed to bring light into any situation and there are so many tributes across the web - you can read his biography here - hard to pick on any but I liked Richard Branson's here
and included this great version of the classic song by "Biko" that was performed by
Peter Gabriel performed Biko a cappella at the unveiling of Steve Biko’s statue and the whole crowd sang every word. He said: "I have been living with the words (of the song) for a long time. It is a sense of completion to be here." You could see tears in Madiba’s eyes - it was one of the most emotive moments of all of our lives.

and Time's 10 songs to remember Manndiba by

The Nelson Mandela Foundation posted its own message. But it was his words that summed it up for me and I have quoted many times:

What counts in life is not the mere fact that we have lived. It is what difference we have made to the lives of others that will determine the significance of the life we lead.” — Nelson Mandela

My deepest sympathies and condolences to the Mandela Family, the Nation of South Africa, the Continent of Africa and his friends around the world

Hamba kahle Madiba
(Go well/stay well)

Monday, December 2, 2013

Virtual Assistants in your Future - Personal Healthcare Delivered

You can always rely on Hollywood to take concepts and extend them into the future - sometimes correctly (cloaking, holographic TV, forcefields and eco skeletons with mind control), sometimes incorrectly (aluminum dresses, atmosphere that is completely controlled, suspension bridge apartment housing). We have had speech recognition and Spock's request:

So it was no surprise to find the latest Hollywood idea is the "Her" - a lonely writer develops a relationship with a newly developed operation system

Intriguing and challenging our current concepts with an exploration of artificial intelligence, voice and natural language technologies. These new styled avatars understand, listen and decipher what we say and something that Nuance has been developing and reinventing the relationship that people and technology can have. We can engage with our devices on our own terms and we have show these concepts in healthcare with our very own Florence - who is getting ready to launch in 2014

Ambitious you say - maybe but imagine the environment with intelligent personal assistants that hear you, understand you, know your likes and preferences – and in our world exist across your doctors office, the phone, surgery, hospital and elderly care and hospice. Cool? Liberating? Impossible?
If you’re Nuance, the idea is not only brilliant – it’s our focus and drive as we reinvent the relationship between people and technology. It is the chance to connect with your devices on human terms and presents infinite possibilities for intuitive interfaces that adapt to you.
Liberating our clinicians to focus on the patient and providing patients with someone they can talk to, interact with and who does have time for them. That future - coming to a doctors office near you: