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  • The Sweetness of our Ancestors: Thoughts on Diabetes, Genetics, and Ethnic Diversity in Research

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    By Larissa Avilés-Santa, M.D., M.P.H.
    Director, Clinical and Health Services Research
    National Institute on Minority Health and Health Disparities


    Hurricane season starts on June 1. Tracking of storms that are formed along the Northwestern coast of Africa moving westward, and predictive models of increasing wind force and rain are the norm in every daily news in the Caribbean during this time of the year. Perhaps, the ships that brought our enslaved ancestors from different regions of Africa, and from different parts of Europe, the Middle East and Asia navigated the same routes of these tropical storms. And those may be the same routes that our other ancestors, those who had lived millennia on this side of the globe, navigated when facing seasonal changes in nature, wars and survival in paradise. All those peoples, all those ancestries met and blended In the New World and gave us a rich inheritance of history, traditions, and health.

    The indigenous people of my archipelago named my land Borikén – the land of the mighty Lord- where they worshiped the god Yukiyú. Yet, they anticipated the devastation after the almost annual ravages caused by the evil god Juracán, where the name hurricane comes from. Hurricane season brings remote and very recent memories of our fragility and resilience. Hurricane season also brings memories of school days off (¡Qué chévere! Nice!), doing homework under the candle lights and eating canned tuna and soda crackers while waiting for electricity to be restored. It also reminds us that catastrophic events like hurricanes can impact our physical surroundings and our physical health.

    Right before the end of the hurricane season comes Thanksgiving, the preamble to our traditionally long Puerto Rican Christmas season: parrandas (impromptu gathering of friends or relatives caroling house to house throughout the night), and of course, preparing and eating food beyond January 6… music, food and drink learned from our ancestors that feed our souls and make our bodies happy…so happy and so sweet.

    Whether diabetes (and especially type 2 diabetes) is hereditary has been a question that both patients and their families want to understand. Clinicians and researchers aim to find answers about the causes of diabetes through human genetics, the science of studying how certain characteristics are passed through generations of a family.

    A recently published study has identified new locations and variations in the DNA sequence of the human genome that could potentially explain how our blood glucose and other diagnostic markers for diabetes, including hemoglobin A1c and insulin levels, relate to our risk of developing diabetes. This major effort was coordinated by a group of more than 400 researchers participating in the Meta-Analysis of Glucose and Insulin-related Traits Consortium (MAGIC). The investigators reanalyzed data from over 200 studies that had collected health and genetic data from a large diverse group of more than 280,000 participants from European, East Asian, South Asian, Hispanic/Latino, African American, and Sub-Sharan African ancestries. One of the studies included in MAGIC’s analysis was the NIMHD supported Hispanic Community Health Study/Study of Latinos, also known as the SOL study—the most comprehensive study of Hispanic/Latino health in the United States.

    How is this study different from other genetic research studies?
    Previously, most genetic research studies on diabetes and other chronic diseases were performed primarily in people of European ancestry. The MAGIC’s analysis was different in two ways.

    1. In the recent past, most (>75%) genetic research studies like this one focused on European populations (ref). The total number of participants from minority groups whose data were included in the MAGIC’s study was 30%, which is a remarkable inclusion effort (ref).
    2. Secondly, the MAGIC’s analysis searched for multiple DNA differences throughout participants’ DNA that could explain elevation and regulation of blood glucose, insulin, and hemoglobin A1c levels in groups of people who were born outside Europe.

    What does this mean to us?
    The MAGIC investigators identified 99 new locations and variants in the human genome that could contribute to one’s risk for diabetes. Moreover, 24 of those 99 new variants were discovered thanks to data from research participants outside Europe. For instance, some of those variants could explain increases in hemoglobin A1c and diabetes in persons of African American ancestry. Other variants could increase blood levels of glucose, insulin, or hemoglobin A1c levels by regulating the expression of glucose-related genes acting in different organs and tissues like the pancreas, fat tissue under the skin or inside the abdominal cavity, muscles, and liver.

    MAGIC is an example of the importance of the participation of persons from minority groups in biomedical research. Simply put, the more of us who participate in clinical research, the more information we will learn about how to successfully prevent and treat conditions that disproportionately affect racial and ethnic minorities. In fact, our participation makes an even bigger impact than our proportion of the population – our ancestry is powerful.

    Does this mean that our genes solely determine our risk for diabetes?
    Not necessarily. Some scholars have proposed that extraordinary events that affect large numbers of individuals at once, like hurricanes and famine, are associated with increased incidence of diabetes and other chronic diseases in later generations. On the other hand, the Diabetes Prevention Program demonstrated that even individuals with genetic codes linked to increased risk for diabetes could put the onset of the disease on hold with daily moderate physical activity.

    As we move into the hurricane season, preparedness and prevention come to mind. Preparing our homes in anticipation for power outages, getting medications and supplies filled and well stored so they are not ruined, and seeking shelter or moving with family or friends while the crisis passes. Keeping our spirits up and our bodies moving (this is great time to dance! ¡A bailar!). As we learn from recent experience and from our heritage, let’s celebrate life and health.

    “Dr. Avilés-Santa would like to thank her colleague Dr. George Papanicolaou, genetic epidemiologist, for proposing and leading the genetic analyses efforts in the HCHS/SOL when he worked at NHLBI, and his valuable comments for this blog.”

    References
    Landry L.G., Ali N., et al. (2018) Lack Of Diversity In Genomic Databases Is A Barrier To Translating Precision Medicine Research Into Practice. Health Affairs, (Millwood).

  • Addiction Should Be Treated, Not Penalized

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    NOTE: NIMHD Insights is reposting this op-ed piece with permission from the Health Affairs Blog. It is written by the Director of NIH’s National Institute on Drug Abuse (NIDA), Dr. Nora D. Volkow, and is available in Spanish on the NIDA website.

    NIDA Director, Dr. Nora Volkow wants to move from punishment to treatment for substance use disorders.

    By Nora D. Volkow, M.D.
    Director of the National Institute on Drug Abuse


    The COVID-19 pandemic has highlighted the large racial health disparities in the United States. Black Americans have experienced worse outcomes during the pandemic, continue to die at a greater rate than White Americans, and also suffer disproportionately from a wide range of other acute and chronic illnesses. These disparities are particularly stark in the field of substance use and substance use disorders, where entrenched punitive approaches have exacerbated stigma and made it hard to implement appropriate medical care. Abundant data show that Black people and other communities of color have been disproportionately harmed by decades of addressing drug use as a crime rather than as a matter of public health.


    We have known for decades that addiction is a medical condition—a treatable brain disorder—not a character flaw or a form of social deviance. Yet, despite the overwhelming evidence supporting that position, drug addiction continues to be criminalized. The U.S. must take a public health approach to drug addiction now, in the interest of both population well-being and health equity.

    Inequitable Enforcement
    Although statistics vary by drug type, overall, White and Black people do not significantly differ in their use of drugs, yet the legal consequences they face are often very different. Even though they use cannabis at similar rates, for instance, Black people were nearly four times more likely to be arrested for cannabis possession than White people in 2018. Of the 277,000 people imprisoned nationwide for a drug offense in 2013, more than half (56 percent) were African American or Latino even though together those groups accounted for about a quarter of the U.S. population.

    During the early years of the opioid crisis in this century, arrests for heroin greatly exceeded those for diverted prescription opioids, even though the latter—which were predominantly used by White people—were more widely misused. It is well known that during the crack cocaine epidemic in the 1980s, much harsher penalties were imposed for crack (or freebase) cocaine, which had high rates of use in urban communities of color, than for powder cocaine, even though they are two forms of the same drug. These are just a few examples of the kinds of racial discrimination that have long been associated with drug laws and their policing.

    Ineffective Punishment
    Drug use continues to be penalized, despite the fact that punishment does not ameliorate substance use disorders or related problems. One analysis by the Pew Charitable Trusts found no statistically significant relationship between state drug imprisonment rates and three indicators of state drug problems: self-reported drug use, drug overdose deaths, and drug arrests.

    Imprisonment, whether for drug or other offenses, actually leads to much higher risk of drug overdose upon release. More than half of people in prison have an untreated substance use disorder, and illicit drug and medication use typically greatly increases following a period of imprisonment. When it involves an untreated opioid use disorder, relapse to drug use can be fatal due to loss of opioid tolerance that may have occurred while the person was incarcerated.

    Inequitable Access to Treatment
    While the opioid crisis has triggered some efforts to move away from punishment toward addressing addiction as a matter of public health, the application of a public health strategy to drug misuse remains unevenly distributed by race/ethnicity. Compared to White people, Black and Hispanic people are more likely to be imprisoned after drug arrests than to be diverted into treatment programs.

    Also, a 2018 study in Florida found that African Americans seeking addiction treatment experienced significant delays entering treatment (four to five years) compared to Whites, leading to greater progression of substance use disorders, poorer treatment outcomes, and increased rates of overdose. These delays could not be attributed to socioeconomic status alone. Studies have shown that Black youth with opioid use disorder are significantly less likely than White peers to be prescribed medication treatment (42 percent less likely in one study, 49 percent in another) and that Black patients with opioid use disorder are 77 percent less likely than White patients to receive the opioid addiction medication buprenorphine.

    A Vicious Cycle of Punishment
    The damaging impacts of punishment for drug possession that disproportionately impact Black lives are wide ranging. Imprisonment leads to isolation, an exacerbating factor for drug misuse, addiction, and relapse. It also raises the risk of early death from a wide variety of causes.

    Besides leading to incarceration, an arrest for possession of even a small amount of cannabis—a much more common outcome for Black youth than White youth—can leave the individual with a criminal record that severely limits their future opportunities such as higher education and employment. This excess burden of felony drug convictions and imprisonment has radiating impacts on Black children and families. Parents who are arrested can lose custody of their children, entering the latter into the child welfare system. According to another analysis by the Pew Charitable Trusts, one in nine African American children (11.4 percent) and 1 in 28 Hispanic children (3.5 percent) have an incarcerated parent, compared to one in 57 White children (1.8 percent).

    This burden reinforces poverty by limiting upward mobility through impeded access to employment, housing, higher education, and eligibility to vote. It also harms the health of the incarcerated, their non-incarcerated family members, and their communities.

    Moving Toward A Public Health Approach
    Five years ago, the 193 member nations of the United Nations General Assembly Special Session on drugs unanimously voted to recognize the need to approach substance use disorders as public health issues rather than punishing them as criminal offenses. Research is urgently needed to establish the effectiveness and impact of public health–based alternatives to criminalization, ranging from drug courts and other diversion programs to policies decriminalizing drug possession.

    In addition to policy research, proactive research is needed to address the racial disparities related to drug use and addiction. From the opioid crisis, we have learned that large research initiatives can be mounted that engage multiple stakeholders—including the justice system (courts, prisons, jails) and the health care system—to cooperate toward the common purpose of reducing a devastating health problem. From the COVID-19 crisis, we have learned that the research enterprise can adapt and rapidly mobilize to address critical threats. These lessons can be applied to reduce systemic inequities in how addiction is addressed and to advance access to high-quality addiction care for all people who need it, whatever their race or background.

    With this in mind, the National Institute on Drug Abuse is redoubling its focus on vulnerabilities and progression of substance use and addiction in minority populations. We are exploring research partnerships with state and local agencies and private health systems to develop ways to eliminate systemic barriers to addiction care. We are also funding research on the effects of alternative models of regulating and decriminalizing drugs in parts of the world where such natural experiments are already occurring.

    People with substance use disorders need treatment, not punishment, and drug use disorders should be approached with a demand for high-quality care and with compassion for those affected. With a will to achieve racial equity in delivering compassionate treatment and the ability to use science to guide us toward more equitable models of addressing addiction, I believe such a goal is achievable.

  • Help NIMHD Share Visions of Health Equity

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    By Gina Roussos, Ph.D.
    Health Policy Analyst, Office of the Director
    National Institute on Minority Health and Health Disparities

    Are you looking for a fun, engaging, and meaningful activity to keep the quarantine blues at bay? Look no further! The National Institute on Minority Health and Health Disparities (NIMHD) invites you and your loved ones to participate in the Envisioning Health Equity Art Challenge—a competition inviting teens (16-18 years) and adults to create images (paintings, drawings, photos, digital art, etc.) that represent NIMHD’s vision: an America in which all populations will have an equal opportunity to live long, healthy, and productive lives.

    During these challenging times, this art competition gives us all the opportunity to take a break from the present for a moment and instead imagine a marvelous, hopefully not-too-distant future in which health disparities based on race and ethnicity, geography, socioeconomic status, and sexual and gender identity are but distant memories.

    NIMHD will offer cash prizes for 1st place ($3,500), 2nd place ($2,500), and 3rd place ($1,500). To provide a more even playing field, prizes will be awarded in two age categories: Teen (16 to 18 years) and Adult (19 years or older). Additionally, winning art pieces will be featured in NIMHD communications materials.

    You can read the full list of challenge rules and requirements, but below we’ve listed some key points:

    • Art pieces must be submitted as .jpg, .png, or .pdf files no larger than 10 MB and with at least 300 ppi (pixels per inch) when printed on an 8½’’ by 11’’ sheet of paper.
    • We are accepting submissions until February 5, 2021 at 11:59 EST; winners will be announced in March 2021.
    • Participants must be U.S citizens or permanent residents aged 16 or older at the time of submission.
    • Be sure to include a parent or guardian signature if you’re under 18.

    So, what are you waiting for? Grab your favorite 2-dimensional art medium and start envisioning health equity! We can’t wait to see what you create. Feel free to email us at NIMHD2020@nih.gov if you have additional questions.