Family Health History

One of the critical building blocks that will enable the new age of personalized / precision medicine will be solid family medical histories. Certified genetic counselors Beth Balkite and Rachel Mills, in their Osher Lifelong Learning course at Duke University this spring, called a good family health history the:

single most important source of information about your future health and risk of illness and your 'free' genetic test.

Healthcare Personalized for You:  

Understanding Genomics and Precision Medicine:

Balkite and Mills say knowing and sharing information about your family history with your medical practitioners is important because:

•Having a first degree relative with a disease can increase your risk for the same disease 2 or 3 fold

•First degree relative = parent, sibling or child

•Having two first degree relatives with the same disease can increase your risk 5 fold

•Similar risks are found if you have other relatives with the same disease

The size of our family health histories will vary. How many first degree relatives do you have? My mother had 16 -- including 13 siblings and 1 child. I had only 4 -- including no siblings and 2 children. Including only first degree relatives is a good start. Collecting and sharing this information is more than most of us do systematically; but including second degree relatives is much more useful and is a much more daunting task.

What is a second degree relative? The simple answer is that it is anyone who is a first degree relative of your first degree relatives. In my example in the previous paragraph, my second degree relatives would include anyone who was a first degree relative of my mother, father and children. My manageable number of 4 first degree relatives explodes to 68 second degree relatives and this does not include the "in-laws" who are not related to me by blood but are to many of my relatives:

•  4 grandparents;
•  2 parents;
•  3 paternal siblings;
•  4 paternal 1st cousins;
• 13 maternal siblings;
• 39 maternal 1st cousins; 
•  0 siblings; and
•  3 grandchildren.

This project looks like it is getting totally out of hand. However, if we want to know if something "runs in the family", even more relatives than this may need to be examined.

If you just can't wait to get started charting your family medical history, here are some of the conventions that have emerged from early diagrams tracing color blindness:

 

Balkite and Mills provide one example of how your chart may look as you proceed through the process:

Of course this is only the beginning. If you want to do all of this online, resources are beginning to emerge that will guide you through the creation process, give you a vehicle for sharing with family and health professionals. They also protect your privacy as you go. These include: My Family Health Portrait; and TapGenes.

Check them out and find one that fits your style. This post is intended only to wet your appetite. You will need all your traditional family history (genealogy) research skills to make this a useful tool as you apply DNA test results in partnership with your health practitioners to use the power of personalized medicine preserve your family's health.

$1,000 Genome in Two Hours by 2012, Says CEO of Ion Torrent

If Jonathan Rothberg is to be believed, we have not seen anything yet. Earlier this month he claimed the mythical “$1,000 genome” will be here next year. He made that claim at MIT’s Emerging Technology conference:  $1,000 Genome in Two Hours by 2012, Says CEO of Ion Torrent - Technology Review.

This claim has the potential to firmly establish personalized genomic medicine within the next two decades. If we can retool medical practitioners as rapidly as we can explore our genomes, we will be seeing amazing things. It will also add great power for those of us who use DNA testing as one of our tools to explore our family histories.

These amazing breakthroughs in science and medicine will make it even more imperative that we as a society develop appropriate legal and ethical norms for defining ownership, control and privacy that should be given to the vast amount of personal information that will be made available.