This next-generation health exam unites genetics, high-tech imaging, and cellular data so we can know more about our own health than ever before.
I am not the only Neanderthal in the room. The physician walking me through the 400-page binder that explains my genetic-sequencing results reveals she is also a Neanderthal. I feel a warm flush of kinship, as if we are part of the same exclusive alumni club. Alas, this club is anything but exclusive, I later discover; most people of northern European descent have a touch of Neanderthal in their genetic material.
So while I am not the only Neanderthal-human hybrid in the room, I am, however, the only Denisovan. To be more accurate, while about 97 percent of my nuclear DNA is homo sapiens, it contains 1.7 percent Neanderthal DNA—a different species!—and a tiny sliver of DNA from the Denisovans, another early hominid species, discovered just eight years ago in Siberia. I learn that Denisovans and Neanderthals were contemporaries of the first humans. One theory says both early hominids migrated out of Africa about 300,000 years ago—Neanderthals generally making the European tour and the less populous Denisovans hooking a right into Asia. I’m tickled to learn the population on the planet that has the most Denisovan DNA (which is only about 3 to 5 percent) in their genomes resides in Papua New Guinea. It is a sharp turn from my more recent ancestry, which the binder confirms as straight-up northern European with a splash of Native American. Go great-great-great grandma.
Helen Messier, MD, PhD, and fellow Neanderthal, is the medical director of genomics at the Health Nucleus in La Jolla, Calif., which offers a new species of health evaluation that integrates genomic data with sophisticated diagnostic imaging and assessments. At $25,000, it is an amped-up and next-generation version of the executive physical, which began as an investment in the health of C-suite employees by large corporations in the mid-20th century. She is the one who explains my ancient roots to me, as well as the clinically relevant findings of the genetic testing.
The Nucleus program is the brainchild of health entrepreneur and scientist J. Craig Venter (also a member of the Neanderthal club). Venter has long been part of the avant-garde of science. At the start of the new millennium, when the National Institutes of Health was spending billions to sequence the human genome, Venter, working outside of academic medicine at the privately funded Celera Genomics, believed he could map the genome faster and for less money. And he did, sequencing his own in 2000 for $100 million. Ever since, he has been innovating, often toppling the prevailing wisdom and courting controversy, such as in the case of creating synthetic bugs, designed to devour pollution or help crops. The Health Nucleus is his latest start-up, under the Human Longevity umbrella, and is a practical application of the results from his earlier race to sequence the human genome.
The whole genome sequencing I experienced is only one component in the library of knowledge to be gained through this full day of tests and scans. It is also, surprisingly, one of the less expensive facets: approximately $1,500 if it were parsed out separately and minus a consultation with an expert such as Dr. Messier. Testing at the Nucleus is intended to detect genetic risks or physiological signs of cardiovascular disease, cancer, and neurodegeneration, arguably the top three health concerns for the majority of adults.
“What is really exciting,” says Dr. Messier, “is that we are obtaining large amounts of ‘omic’ data, including whole genome sequencing, metabolome, and microbiome as well as in-depth imaging data that will allow us to integrate and understand both sets of data better. The Nucleus can not only identify existing disease and make predictions on future risk for disease, but it also provides a fabulous baseline for comparison as each individual changes in the future.”
A New Gold Standard
Most executive physicals are annual undertakings, but the Health Nucleus program is something you might undergo every five years, depending on health goals. Although, as Dr. Messier adds, “There is power in doing more frequent assessments of things that can change rapidly, such as your metabolome and microbiome. These will respond fairly quickly to certain diet and lifestyle changes and can be used for monitoring these changes.”
Unlike the executive assessments offered at major hospitals, however, this physical is meant to be more diagnostic than clinical; the doctors here may direct patients to specialists if asked, but they themselves do not treat patients. The Health Nucleus testing includes such standard executive-physical components as a gait and balance analysis and a DXA (dual-energy X-ray) body composition and bone density scan. However, each client also receives a knee-to-crown, 75-minute MRI—a scan usually performed only if cancer is suspected through other means, such as blood tests or symptoms of unexplained pain. The MRI’s 3-Tesla magnet, custom made by General Electric, is so powerful that even with the copper-lined walls and floor in the room where it lives, Venter worried that it might draw up cars parked in the lot below. Its scans are the most in-depth and clear that are currently available.
The Health Nucleus also includes tests for sleep apnea, carotid intimal thickness (an ultrasound that quantifies plaque in the carotid arteries), neurocognition (memory, attention, and executive function), an electrocardiogram, the DNA sequencing of the microbiome (the billions of bacteria that reside in the intestines), and an analysis of the metabolome (all the chemicals and molecules that result from biochemical reactions in our biological and cellular processes). Imbalances in the metabolome, such as an abundance of TMAO (a metabolite produced by the digestion of choline, which is present in eggs) detected in a blood sample, can be precursors to disease. In the case of TMAO, too much may be a risk factor for heart disease.
In addition, there is the 4-D echocardiogram, one step beyond the 3-D tomography angiogram considered best practice elsewhere. The 4-D image, which appears on screen in the round in full color, shows the magnificent but eerie nitty-gritty of the heart, including its valves and vessels. Looking into your own body in such fine detail engenders a fascination that feels like a morbid prurience. But knowledge is power, one can argue,
especially with regard to health.
Once armed with the data, patients can relay it to their primary care physicians and specialists, although Dr. Messier makes recommendations where possible. In my case, adding magnesium to my diet to increase my body’s production of telomerase, which should help lengthen my rather disappointingly stubby telomeres (the caps at the end of each chromosome that wear away with age, like the plastic tips of a shoelace). She also recommends that I get a regular dose of interval training and CoQ10 supplements to boost the low number of mitochondria in my cells. (The amount of mitochondria and the length of telomeres may be biomarkers for longevity.) After all, the point of having this knowledge, as Venter tells me in an earlier conversation, is not to divine a kind of genetic fatalism, but rather to make lifestyle changes—or, worst-case scenario, enroll in clinical trials or enter treatment—that can extend our lives and keep us healthier during that time.
DNA isn’t everything—it only relays susceptibilities—so other assessments at the Nucleus complement the genomic deep dive.
Putting the Om in MRI
The experience at the Health Nucleus is as luxurious as diagnostic medicine can be. My private suite feels more executive than medical with its flat-screen television, polished hardwood floors, sleek cabinets and closet, and leather sofa. The minibar is stocked with healthy snacks, waters, juices, and sodas. A nutritious lunch is served, and there is even a selection of new hardcover books artfully displayed that tempt me when I enter. The Wi-Fi signal is strong, so work can go on between scans.
A nurse preps me for what is to come and hands me my new garments for the day: a complimentary T-shirt, pajama-like scrubs, some cozy socks, and a spa robe—no paper johnnies here. Ten minutes later I lay on the narrow bed that carries me into the tight bore of one of the most powerful magnets in the country. A lavender-scented cloth covers my eyes, and through earbuds I can connect to my smart phone and listen to the novel I have in queue, coincidentally titled The Testing.
For the first 30 minutes of the MRI, I surprise myself by dropping off to sleep, finally relaxing after the rush to arrive punctually at the facility. Too soon, it is time for a break and a shift in position so the machine can focus on my upper torso and head for the next 45 minutes. Only toward the end of that stretch of time do I feel the constraint of the straps preventing me from itching my nose. I take comfort in the emergency squeeze ball that signals the technicians if I need escape. I don’t use it, but I feel better knowing it is there. Afterward, the technician shows me a few of the images, and I can see my brain’s vasculature like a surreal X-ray of tossed fettuccine and angel hair suspended in air.
I get to speak directly to the radiologist, and I am relieved that the MRI does not show signs of early degeneration in my brain or of cancer. My organs look healthy. The radiologist pays particular attention to my kidneys because my genome sequencing marks me as having a high risk for kidney stones. Not a one spotted. I was also concerned about early onset of neurodegeneration, because I have a strong family history of dementia and Alzheimer’s disease. The MRI amplifies the relief I felt earlier during my discussion with Dr. Messier when I learned that I do not have the evildoing allele, E4, on my APOE gene that has been linked to Alzheimer’s. Instead, Dr. Messier tells me that I have the E2 and E3 alleles. E3 appears to be neutral for Alzheimer’s, and research says the rarer E2 may be protective against the disease.
While I am disappointed to learn about my short telomeres and low number of mitochondria per cell, that dismay is outweighed by the relief I feel on other fronts. Venter believes that easing patients’ minds about their health concerns with such tests is a beneficial side effect because it eliminates a source of longevity-reducing stress.
Long before I slid into that giant magnet or set foot in the spacious suites of the Health Nucleus, the physical began with a vial of saliva I sent to their labs for the whole genome sequencing, a discussion of health and family history over the phone, and registration on a secure digital portal where scans and test results can be posted for reference. A coordinator sent me e-mails about what to expect, what to bring with me, and what not to wear (no metals in the magnet). The care continues even after I leave, with follow-up videoconferencing with the radiologist and Dr. Messier, so I am not at the mercy of the Internet to further interpret my test results.
There is one final, digital component that completes the feeling that this executive physical is truly on the cutting edge of wellness. Before you leave, a technician takes dozens of 360-degree photos. These images are crafted into a digital avatar and loaded into a program with all final test results and then onto an iPad, given about eight weeks post-visit either in person with a follow-up visit or through the mail. I will be able to tap on my avatar’s head, zooming in like I would with a Google Earth satellite image to go deeper and deeper inside. My avatar will then present my test results: my brain volume or the bone density of my skull, the significant mutations on my genome, uniting all aspects of the testing in one place and in context. This might be the most tangible—and meta—experience yet of taking my health into my own hands: I will be able to explain me to myself.
»Health Nucleus, healthnucleus.com, 866.565.5633