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Personal Genomic Tests: Do We Know Enough For Them To Be Beneficial?

Think Before You Spit- a woman looking at a test tube

Campaigns against public spitting in the 19th century were largely driven by concerns about the spread of tuberculosis. However, at the beginning of the 21st century, spitting seems to be making a comeback.  Over the past few years, several companies have begun offering personal genomic tests online to the public. There have been famous images of “spit parties”, where celebrities are seen filling tubes with saliva to ship for DNA testing. Getting information on one’s genes has been promoted as fun, as part of social networking, and as a basis for improving health and preventing disease.

When it comes to spitting to improve one’s health, we say: think before you spit.  Our knowledge of the potential benefits and harms of these tests is incomplete at best.  Despite exciting research advances in genomics of common diseases, there is still much to learn about what this information means and how to use it to prevent disease. A little bit of incomplete or inaccurate information may even be harmful.

There are at least 2 key questions to consider when deciding whether personal genomic tests are worth your spit. First, how well can these tests detect or predict particular health conditions?  Most common diseases, such as diabetes, cancers, and heart disease, are caused by multiple genes and interactions with environment and behavior. Therefore, a risk estimate based only on genes is bound to be uncertain and can rapidly change based on new information. Different companies may even arrive at different interpretations of the same information. In 2010, a special undercover investigation by the Government Accountability Office found that tests by different companies of the same samples gave contradictory results. Second, can the test provide additional information that leads to better health? If the test indicates increased or decreased risk for a disease, what can be done about it? Will the test tell us more than what we know to do already?

Many interventions for reducing one’s risk for common diseases–such as smoking cessation, weight loss, increased physical activity, and blood pressure control–are beneficial regardless of a person’s genetic background. In the words of one consumer who responded to the CDC podcast on personal genomics in 2010:  “…seems one should just assume you have many health risks, then take really good care of yourself to lessen risks. Pretend you did the tests. Get ‘pretend-scared’ straight! You can then motivate yourself to keep healthy weight, exercise, reduce stress, get enough rest, consume healthy foods, avoid unhealthy habits,  enjoy hobbies & keep mind active, build friendships & family bonds…” In fact, new data from CDC show that people who engaged in four healthy behaviors — not smoking, eating a healthy diet, getting regular physical activity, and limiting alcohol consumption- had much lower likelihoods of dying (over an 18 year period) from cancer, cardiovascular disease and other causes than those who did not engage in all four healthy behaviors.  Not smoking provides the most protection from dying early from all causes.

Several scientific studies designed to evaluate the potential impact of personal genomic information on health behavior and outcomes have been published and more are under way. Recommendations for setting scientific standards and a research agenda for personal genomics were published in 2009 by a panel convened by the Centers for Disease Control and Prevention and the National Institutes of Health.  Those recommendations for scientific evaluation still hold today.

In 2008, Dr. Kari Stefansson, a leading scientist in the genetics community and founder of one of the companies that offer personal genomic tests said: “I am convinced that within five years every college-educated person in America is going to have a [genomic] profile like this. You cannot afford not having this.”  While this prediction may or may not be fulfilled based on the evolving scientific evidence, when a valid and useful test becomes available, the public health imperative is to have such tests widely available,  regardless of educational levels or other socioeconomic factors. For example, a recent national survey found that BRCA1/2 testing for breast and ovarian cancer—which is clearly beneficial for some women at high risk—is underutilized, especially among black and Hispanic women.

A very informative and inexpensive “genomic test” is available right now: family health history. An accurate, updated family health history can help healthcare providers assess the presence of many genetic conditions and whether patients and their relatives may have an increased risk for specific diseases. Family history also captures shared genetic, environmental and cultural disease risk factors.

We are interested to receive your thoughts about the use of personal genomic tests to improve health and prevent disease.

*This blog post was originally published at Genomics and Health Impact Blog*


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Richmond, VA – In an effort to simplify inpatient medical billing, one area hospitalist group has determined that “altered mental status” (ICD-9 780.97) is the most efficient code for use in any patient work up.

“When you enter a hospital, you’re bound to have some kind of mental status change,” said Dr. Fishbinder, co-partner of Area Hospitalists, PLLC. “Whether it’s confusion about where your room is located in relationship to the visitor’s parking structure, frustration with being woken up every hour or two to check your vital signs, or just plain old fatigue from being sick, you are not thinking as clearly as before you were admitted. And that’s all the justification we need to order anything from drug and toxin screens, to blood cultures, brain MRIs, tagged red blood cell nuclear scans, or cardiac Holter monitoring. There really is no limit to what we can pursue with our tests.”

Common causes of mental status changes in the elderly include medicine-induced cognitive side effects, disorientation due to disruption in daily routines, age-related memory impairment, and urinary tract infections.

“The urinalysis is not a very exciting medical test,” stated Dr. Fishbinder. “It doesn’t matter that it’s cheap, fast, and most likely to provide an explanation for strange behavior in hospitalized patients. It’s really not as elegant as the testing involved in a chronic anemia or metabolic encephalopathy work up. I keep it in my back pocket in case all other tests are negative, including brain MRIs and PET scans.”

Nursing staff at Richmond Medical Hospital report that efforts to inform hospitalists about foul smelling urine have generally fallen on deaf ears. “I have tried to tell the hospitalists about cloudy or bloody urine that I see in patients who are undergoing extensive work ups for mental status changes,” reports nurse Sandy Anderson. “But they insist that ‘all urine smells bad’ and it’s really more of a red herring.”

Another nurse reports that delay in diagnosing urinary tract infections (while patients are scheduled for brain MRIs, nuclear scans, and biopsies) can lead to worsening symptoms which accelerate and expand testing. “Some of my patients are transferred to the ICU during the altered mental status work up,” states nurse Anita Misra. “The doctors seem to be very excited about the additional technology available to them in the intensive care setting. Between the central line placement, arterial blood gasses, and vast array of IV fluid and medication options, urosepsis is really an excellent entré into a whole new level of care.”

“As far as medicine-induced mental status changes are concerned,” added Dr. Fishbinder, “We’ve never seen a single case in the past 10 years. Today’s patients are incredibly resilient and can tolerate mixes of opioids, anti-depressants, anti-histamines, and benzodiazepines without any difficulty. We know this because most patients have been prescribed these cocktails and have been taking them for years.”

Patient family members have expressed gratitude for Dr. Fishbinder’s diagnostic process, and report that they are very pleased that he is doing everything in his power to “get to the bottom” of why their loved one isn’t as sharp as they used to be.

“I thought my mom was acting strange ever since she started taking stronger pain medicine for her arthritis,” says Nelly Hurtong, the daughter of one of Dr. Fishbinder’s inpatients. “But now I see that there are deeper reasons for her ‘altered mental status’ thanks to the brain MRI that showed some mild generalized atrophy.”

Hospital administrators praise Dr. Fishbinder as one of their top physicians. “He will do whatever it takes to figure out the true cause of patients’ cognitive impairments.” Says CEO, Daniel Griffiths. “And not only is that good medicine, it is great for our Press Ganey scores and our bottom line.”

As for the nursing staff, Griffiths offered a less glowing review. “It’s unfortunate that our nurses seem preoccupied with urine testing and medication reconciliation. I think it might be time for us to mandate further training to help them appreciate more of the medical nuances inherent in quality patient care.”

Dr. Fishbinder is in the process of creating a half-day seminar on ‘altered mental status in the inpatient setting,’ offering CME credits to physicians who enroll. Richmond Medical Hospital intends to sponsor Dr. Fishbinder’s course, and franchise it to other hospitals in the state, and ultimately nationally.

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