King Tut and Genomics

I wrote in The Future of Medicine- Megatrends in Healthcare that genomics was a revolutionary new technology in medicine and that it would lead to disruptive new megatrends in medical care. I was thinking about new approaches to disease prediction, developing targeted drugs, directing the approach to drug prescribing to assure efficacy yet few side effects, and rapid diagnosis.

Many of us enjoy genealogy as a hobby and to learn about our ancestors. Genomics can been used to study our own genealogy – where did we come from and when? At a recent conference the lady sitting next to me told the group that she and her husband had just had their ancient genealogy studied by DNA analysis. In brief, her ancestors began in the north east of Africa, crossed over to the Middle East, then up into the north of the European continent and finally moved westward to Ireland and then to America. Her husband’s ancestors came from Egypt thousands of years ago, moved into the Middle East, then into central Asia and finally to southeastern Europe before immigrating to America. They and their children really appreciated and enjoyed learning about these origins and migrations over the millennia. And it was possible all because of the development of genomic analyses.

Now a group of Egyptologists has used genomic information along with CT scanning to study the ancestry and diseases found in King Tutankhamun and his family. King Tut, as he is often called, lived during the 18th Dynasty of the New Kingdom and died in about 1324 BC after a nine year reign. He followed his father, Akhenaten, who was controversial for his efforts to make major religious change in Egyptian society.

The researchers were able to construct a five generation pedigree. Among the findings – his parents were brother and sister children of Amenhotep III. It was possible to determine which mummy was his grandmother, Nefertiti, and which his father, Akhenaten. Thus these and other previously unidentified mummies can now be given their known names.

King Tut and his father pharaoh Akhenaten were often depicted as markedly feminized in statues and drawings. Did that mean that they had gynecomastia or some other feminizing disease? The genomic and CT skeletal results ruled out many such diseases such as Marfans or Antley-Bixler syndrome. Presumably this was an artistic presentation related to the new religious reforms started by Akhenaten. Other findings on CT scans of the mummies were that King Tut had cleft palate, a mild clubfoot, left foot bone necrosis and a leg fracture. His foot abnormalities on the left forced him to put more weight on the right and probably he had to use a cane. Others in his family tree had cleft palate, scoliosis, club feet and many had dental caries. One mummy had suggestion of metastatic cancer and a few had evidence of trauma – arrow wound to chest, traumatized face and skull. The biopsied materials studied by genomic analysis also identified malaria in King Tut and other mummies, representing the earliest proof of malaria infection to date, some 3300 years ago.

The authors of the article [JAMA, Feb 17, 2010, p638-646 and also a recent program on the Discovery Channel] suggest that a new scientific discipline may be emerging – molecular Egyptology, combining many fields of study including natural and life sciences, humanities, and medicine. For me it is another example of the incredible opportunities developing as we learn more about the use of genomic analyses.

“Front of Package Food Labels – Public Health or Propaganda”

The current issue of the Journal of the American Medical Association [JAMA, February 24, 2010, pages 771-772] has an interesting editorial of the title here by Drs Nestle and Ludwig about food labeling. “At no point in US history have food products displayed so may symbols and statements proclaiming nutrition and health benefits” is the opening sentence. In brief, the authors suggest that processed food companies have been aggressive in putting information on the front of their packages that suggest or actually tout a health claim. They point out that in 1984, Kellogg got the National Cancer Institute to agree to a health claim for All Bran cereal. The market share of All Bran rose 47%. Clearly, a health claim sells food products.

But what about claims that a food package is “low salt” or “low cholesterol” or “low fat?” Usually this represents a relative statement. If a soup is low salt but if one eats multiple servings per meal, then low salt becomes a lot of salt. If low sugar means just a small bite of the chocolate bar, that is true but who eats just a small bite?

The article noted that the San Francisco city attorney was able to force Kellogg to stop using the statement that sweetened breakfast cereals “help support your child’s immunity.” There was no evidence to support this claim and furthermore, sugared foods raise many other health issues.

Manufacturers naturally want to use health claims; it helps sell the product. But these claims can confuse the shopper and may well suggest to the buyer that the government has somehow endorsed the statement when in fact it has not. Indeed, few claims can be verified because no unbiased evaluation has been done to accept or refute them. Stating that a food is fortified with a vitamin does not mean that it is a healthy food; just that it has had the vitamin added. The important question is whether the food, say a cereal, is made of whole grains and has little or not sugars, salt or fat added.

The authors conclude by recommending that the FDA strictly regulate front-of-package labeling based on sound studies. Seems like a very good idea to me.

We Have Become An Obese Nation

Fifty years ago about 55% of Americans were overweight as measured by body mass index [BMI which is based on the relationship of height to weight]. Broken down this was 32% “pre-obesity” or “overweight” [meaning BMI between 25.0 and 29.9] and 13% obese [BMI 30 or greater.] Today that 55% has increased to 68% with 34% now in the obese range! Obesity affects all ages and genders. Among adults, 72% of men and 64% of women are pre-obese and 32% and 36%, respectively, are obese. And very disturbing is the trend toward obesity among children and adolescents, with about 32% of school kids above the 85th percentile for BMI. [For more details see three related articles in the Journal of the American Medical Association, January 20, 2010]

Obesity is a predisposing factor to a broad range of chronic illnesses, among them cancer, heart disease, diabetes, chronic lung disease, and stroke. They make arthritis worse and diabetes very difficult to treat. These are lifelong and expensive to treat. Some estimates suggest that 10% of all healthcare costs relate to obesity and others would suggest even much higher amounts. These are chronic illnesses that reduce lifespan and decrease quality of life.

We are witnessing an increasing epidemic of type 2 diabetes largely related to being overweight and it is estimated that coronary artery disease, declining in recent decades, will once again be on the rise as a result of our sedentary life style combined with a non-nutritious, high calorie diet.

The time is here for a concerted national effort on both the population level and the individual level to correct this serious imbalance. Governments need to mandate nutritious foods in schools while eliminating inappropriate foods from vending machines and the cafeteria. Posting calorie counts in fast food restaurants will at lest help individuals realize the implications of the decisions they make. Schools can teach more about healthy lifestyles. The work of the First Lady, Michelle Obama, to foster good eating habits along with healthy food choices and personal gardening are to be strongly commended.

At the individual level, parents need to teach good eating habits beginning in early childhood. All of us need to appreciate the implications of non-nutritious foods and the perils of being overweight. Physicians need to appreciate the power of their influence on patients and take the time to counsel their patients on the importance of a lifestyle that incorporates good food [fresh vegetables and fruit, more fish than meat, whole grains like whole wheat and brown rice, and the avoidance of prepared/packaged foods,] the right amount of food calories per meal and per day, along with adequate exercise and stress management.

In the end, we cannot blame anyone but ourselves for our sedentary habits and obesity but at the same time we can recognize that the “fix” is very difficult and so we must all help each other to lead a healthier lifestyle. Group support whether it is in the family, among friends, at school or at work can be very helpful to each of us to maintain our effort to reach worthy goals.