Even though genetic information is available, doctors may be ignoring important clinical cluesGreg Hall, Case Western Reserve University
With the availability of home genetic testing kits from companies such as “23andMe” and “Ancestry DNA,” more people will be getting information about their genetic lineage and what races and ethnicities of the world are included in their DNA.
Geneticists, meanwhile, are also getting more tailored information about disease risk and prevalence as genetic testing in medical research centers continues.
Physicians accept that cystic fibrosis, for example, is much more common in people with Northern European ancestry and that sickle cell disease occurs dramatically more often in people with African origins. These commonly accepted racial and ethnic differences in disease prevalence are just the tip of the iceberg when looking at clinical differences that vary based on genetics.
But there’s a problem, a recent study from the National Institutes of Health found. Many physicians and other providers are uncomfortable discussing race with their patients, and also reticent to connect race or ethnicity to genetics and clinical decision-making, the study suggested.
Overall, physician focus groups “asserted that genetics has a limited role in explaining racial differences in health,” the authors added.
As a primary care physician who teaches urban health to medical students and as a state minority health commissioner who advocates for health equity, I see this as a problem that health care systems, and their providers, need to address.
The state of the science
Commercial DNA tests, such as those provided by 23andMe, not only give people their racial and ethnic lineage but also can provide a weighted risk for diabetes, stomach ulcers, cancer and many other diseases. In April, the FDA granted approval to 23andMe to sell reports to consumers that tell them whether they may be at heightened risk.
These companies already have the data that describe the risks for health problems based on the percentage of their ancestry composition. Those differences have been published and known in academic circles for many years. With the widespread availability of DNA tests, patients will now know their increased individual risks.
For example, Ashkenazi Jews, a specific Jewish ethnic population originating from Central and Eastern Europe, are known for having a disproportionate occurrence of a number of diseases, including Tay-Sachs disease, amyloidosis, breast cancer, colon cancer and many more.
The BRCA1/2 gene mutation greatly increases the propensity for breast and colon cancer and occurs in 1 in 40 people of Ashkenazi Jewish heritage, whereas 1 in 800 Americans in general carry that mutation. This 20-fold increased risk should prompt more aggressive screening for the gene, and more frequent and earlier mammography and colonoscopies in Ashkenazi Jews compared to the general population.
Relatively higher rates of these cancers occur in certain populations, such as Ashkenazi Jews, and demonstrates the need for more nuanced care based on data that is already available. But this information is too infrequently accessed by providers.
Genetics knowledge growing fast
African-Americans are another group with higher rates of certain genetically driven diseases. African-American men have an increased occurrence of prostate cancer, kidney failure, stroke and other health problems. Prostate cancer in African-American men, for example, grows faster and metastasizes four times as often than in European-Americans.
But despite this increased risk for prostate cancer, doctors’ use of the PSA (prostate specific antigen), a test that works well with identifying prostate cancer in African-Americans, has steadily decreased due to recommendations aimed at majority patients who come from European-related heritage. In European-Americans, prostate cancer can be more indolent and occurs at a lower rate than African-Americans.
Also, certain types of blood pressure medications – ACE inhibitors, for example – lead to worse outcomes in African-Americans when used singularly as first-line therapy for high blood pressure, yet these medications work very well in Americans of European decent, a large study of hypertension therapy found.
A follow-up study that looked at subsequent clinical practices – which was done in response to changed recommendations based on race – showed nearly a third of African-American hypertensive patients continued to be prescribed medications that cause worse outcomes.
African-Americans also have a four-fold increased risk for renal disease leading to dialysis. Geneticists suspect that they have identified the gene that drives this difference yet most clinicians do not have the resources to test for this gene and identify the 30 percent of African-Americans that carry it.
And a gene that greatly increases the risk for Alzheimer’s disease, APOE-4, has also been identified and occurs disproportionately higher in European-Americans yet is almost nonexistent in African-Americans and is inconsistent in Hispanic-Americans. Great controversy exists surrounding the testing for this gene, given the devastating impact it could have on a patient or family. (Hispanic and African-Americans still have a very significant risk for Alzheimer’s disease, but it is not driven by this gene).
Genetically different responses to medications
Patient response to medications vary according to the presence or absence of genetic variants, which can impact the dose and the effect of many pharmaceuticals. Some of these differences can be anticipated based on race or ethnicity. For example, Warfarin is a commonly used medication in the treatment of a number of cardiovascular disorders including atrial fibrillation, deep vein thrombosis and heart valve replacement. It shows wide variations in dosing, with Americans of Asian descent requiring less medication and African-Americans requiring more to achieve equal effects. European-Americans have a variant gene that make having a major bleed on Warfarin much higher.
A popular cholesterol-lowering medication, Rosuvastatin, better known as trade name Crestor, is twice as powerful in patients of Asian descent, and their manufacturing label indicates starting at a much lower dose in this population. In fact, the highest manufactured pill dose of Crestor is “contraindicated in Asian patients.”
Patient-centered care is the key
Because of the “patient-centered” movement in hospitals, clinics and insurance plans, providers are now feeling increased pressure to improve the quality of care provided to individual patients. Many outcomes and patient cost of care are now tracked by providers. And countless well-designed studies have validated verified differences in the clinical care of a number of pervasive diseases based on ancestry.
Providers need to educate themselves about the important differences that exist in their patient populations. Health disparities, while driven by a number of social factors, are also the result of some clinicians not applying known nuances in the care of special populations.
As home genetic testing grows, patients will be bringing their results to physicians for reaction and response. Physicians will need to be proactively prepared.
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The opioid epidemic in 6 essential readsAviva Rutkin, The Conversation and Jessie Schanzle, The Conversation
Editor’s note: The following is a roundup of archival stories related to opioids.
The opioid crisis appears to be getting worse, not better.
According to The New York Times, drug deaths are rising faster than ever, with more than 59,000 overdose deaths in 2016.
The situation has been dire for a few years, with six in 10 drug overdose deaths in 2014 involving an opioid, such as a painkiller or heroin.
In May, Donald Trump appointed a commission on the opioid epidemic, which he’s described as “a tremendous problem.” However, his proposed budget includes cuts to agencies like the Office of National Drug Control Policy and the Substance Abuse and Mental Health Services Administration.
At The Conversation, scholars have been examining the many facets of the epidemic for months. Here are six articles that explain the background of the epidemic and where were might go from here.
How did we get here?
Ted Cicero and Matthew Ellis, who study opioid abuse at Washington University in St. Louis, argue that the epidemic is rooted in two events: the introduction in 1996 of OxyContin, an extended-release high-dose opioid, and a 2001 report on pain treatment from the Joint Commission on Accreditation of Healthcare Organizations.
As Cicero and Ellis write:
Jeannie D. DiClementi, a professor of psychology, points out that the increase in opioid prescriptions led to an increase in heroin use:
Fentanyl, a synthetic opioid 100 times more powerful than heroin, was first introduced in the 1960s as a painkiller during major surgery. Illictly made fentanyl is now found on the street, often in counterfeit drugs. So are novel synthetic opioids that are chemically unrelated to anything used in medicine but act on the same receptors in the body and brain. These drugs are generally manufactured in clandestine labs in China and Mexico.
However, adding these illicitly made versions of fentanyl and other new opioids to Schedule I – the category of the Controlled Substances Act for illegal drugs like heroin – can be a lengthy process. And as Samuel Banister, Roy Gerona and Axel Adams, who study these new synthetic substances, explain:
Last year, the federal government passed legislation aimed at expanding access to addiction treatment and took steps to improve treatment options for people in the criminal justice system.
William Greene and Lisa J. Merlo from the University of Florida wrote that:
We still need opioids
Pain, explains Robert Caudle at the University of Florida, is complex and multifaceted, something that we can experience in many dimensions. Opioids can suppress incoming pain signals, prevent those signals from being amplified and improve the emotional states of the patient, all critical things for people with chronic pain.
In many ways, opioids are the most effective treatment we have currently, but Caudle notes out that we aren’t investing much in finding better ones:
While the opioid epidemic wears on in the U.S., parts of South America, Africa and Asia face a very different opioid crisis: too few of them. People in those parts of the world often cannot access pain medication stronger than acetaminophen.
Luke Messac argues that policies from the International Narcotics Control Board aimed at preventing opioids from being diverted for illict use have wound up keeping these medicines out of the hands of people who truly need them. “Pain is universal,” writes Messac, “but its relief is still a function of geography.”
This is an updated version of a story that originally ran on October 6, 2016.
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Do poor people eat more junk food than wealthier Americans?Jay L. Zagorsky, The Ohio State University and Patricia Smith, University of Michigan
Eating fast food is frequently blamed for damaging our health.
As nutrition experts point out, it is not the healthiest type of meal since it is typically high in fat and salt. More widely, it’s seen as a key factor in the growing obesity epidemic in the U.S. and throughout the world.
Because it’s considered relatively inexpensive, there’s an assumption that poor people eat more fast food than other socioeconomic groups – which has convinced some local governments to try to limit their access. Food journalist Mark Bittman sums up the sentiment succinctly:
Our recently published research examined this assumption by looking at who eats fast food using a large sample of random Americans. What we found surprised us: Poor people were actually less likely to eat fast food – and do so less frequently – than those in the middle class, and only a little more likely than the rich.
In other words, the guilty pleasure of enjoying a McDonald’s hamburger, Kentucky Fried Chicken popcorn nuggets or Taco Bell burrito is shared across the income spectrum, from rich to poor, with an overwhelming majority of every group reporting having indulged at least once over a nonconsecutive three-week period.
A diet of Cokes and Oreos
In retrospect, the fact that everyone eats fast food perhaps should not be that surprising.
There are rich and famous people, including President Donald Trump, who are also famous for their love of fast food. Trump even made a commercial for McDonald’s in 2002 extolling the virtues of their hamburgers. Warren Buffett, one of the world’s richest people, says he “eats like a 6-year-old,” meaning lots of Oreos and Cokes every day (he invests like one too).
What we learned from our research is that we all have a soft spot for fast food. We analyzed a cross-section of the youngest members of the baby boom generation – Americans born from 1957 to 1964 – from all walks of life who have been interviewed regularly since 1979. Respondents were asked about fast-food consumption in the years 2008, 2010 and 2012 – when they were in their 40’s and 50’s. Specifically, interviewers posed the following question:
Overall, 79 percent of respondents said they ate fast food at least once during the three weeks. Breaking it down by income deciles (groups of 10 percent of aggregate household income) did not show big differences. Among the highest 10th of earners, about 75 percent reported eating fast food at least once in the period, compared with 81 percent for the poorest. Earners in the middle were the biggest fans of fast food, at about 85 percent.
The data also show middle earners are more likely to eat fast food frequently, averaging a little over four meals during the three weeks, compared with three for the richest and 3.7 for the poorest.
Because the data occurred over a four-year period, we were also able to examine whether dramatic changes in wealth or income altered individuals’ eating habits. The data showed becoming richer or poorer didn’t have much effect at all on how often people ate fast food.
Regulating fast food
These results suggest focusing on preventing poor people from having access to fast food may be misguided.
For example, Los Angeles in 2008 banned new freestanding fast food restaurants from opening in the poor neighborhoods of South L.A. The given reason for the ban was because “fast-food businesses in low-income areas, particularly along the Southeast Los Angeles commercial corridors, intensifies socio-economic problems in the neighborhoods, and creates serious public health problems.”
Research suggests this ban did not work since obesity rates went up after the ban compared to other neighborhoods where fast food had no restrictions. This seems to pour cold water on other efforts to solve obesity problems by regulating the location of fast-food restaurants.
Not all that cheap
Another problem with the stereotype about poor people and fast food is that by and large it’s not actually that cheap, in absolute monetary terms.
The typical cost per meal at a fast-food restaurant – which the U.S. Census calls limited service – is over US$8 based on the average of all limited service places. Fast food is cheap only in comparison to eating in a full-service restaurant, with the average cost totals about US$15 on average.
Moreover, $8 is a lot for a family living under the U.S. poverty line, which for a family of two is a bit above $16,000, or about $44 per day. It is doubtful a poor family of two would be able to regularly spend more than a third of its daily income eating fast food.
The lure of fast food
If politicians really want to improve the health of the poor, limiting fast-food restaurants in low-income neighborhoods is probably not the way to go.
So what are some alternative solutions?
We found that people who said they checked ingredients before eating new foods had lower fast-food intake. This suggests that making it easier for Americans to learn what is in their food could help sway consumers away from fast food and toward healthier eating options.
Another finding was that working more hours raises fast-food consumption, regardless of income level. People eat it because it’s fast and convenient. This suggests policies that make nutritious foods more readily available, quickly, could help offset the lure of fast food. For example, reducing the red tape for approving food trucks that serve meals containing fresh fruits and vegetables could promote healthier, convenient eating.
Our goal is not to be fast-food cheerleaders. We do not doubt that a diet high in fast food is unhealthy. We just doubt, based on our data, that the poor eat fast food more than anyone else.