The promise of personalized medicine is not for everyone 

The promise of personalized medicine is not for everyone 

Video Courtesy of the Northwestern University Feinberg School of Medicine


Could your medical treatment one day be tailored to your DNA? That’s the promise of “personalized medicine,” an individualized approach that has caught the imagination of doctors and researchers over the past few years. This concept is based on the idea that small genetic differences between one person and another can be used to design tailored treatments for conditions as diverse as cancer and schizophrenia.

In principle, “personalized” is not meant to mean one person but not another, though that may not turn out to be the case. Existing genetic and medical research data conspicuously underrepresent certain populations.

Case in point: Last month, researchers published a surprising study on youth suicide rates. Scientists long believed that white youth had the highest rates of suicide. But, examining data from the Centers for Disease Control and Prevention, they found that suicide rates for African-American children under the age of 13 were twice as high as whites.

This finding turned long-held assumptions about racial imbalances in mental illness on its head. It could not be explained by economic circumstances, suggesting that there are other factors at play, perhaps even genetic factors. Suicide is a complicated personal act, but science has shown that genes play an important role.

This unexpected result may have implications for prevention and treatment based on genes – in other words, personalized medicine. But the state of current genetic research suggests that African-Americans will likely miss out on many of the potential future benefits of personalized medicine.

As lead author Jeffrey Bridge of the Nationwide Children’s Hospital in Ohio noted to
the Washington Post, “Most of the previous research has largely concerned white suicide. So, we don’t even know if the same risk and protective factors apply to black youth.”

Few experts have studied the possible genetic causes for African-American suicide, focusing instead on environmental and social reasons.

While most mental illnesses such as depression are first diagnosed in adulthood, they actually have their origins early in development, as genes and the environment interact to shape the brain of a growing fetus. For example, my colleagues and I published a study in May showing that genes and pregnancy problems combine to increase the likelihood of schizophrenia.

This should cause some alarm, because African-American women have much higher rates of pregnancy complications. Black infants die at twice the rate of white infants. Again, this is not explained by socioeconomic reasons.

In short, a higher rate of pregnancy problems likely puts African-Americans at increased risk of developing mental illnesses, perhaps explaining the noticeable increased rate of suicides. Additional genetic data on this population could potentially illuminate the issue.

To better understand genes that increase the risk for mental illness, researchers study the brains of people who have died. They examine how genetic differences could have led to changes in the brains of people who developed these conditions. This is one of the best ways to understand any brain disorder at a biological level.

But African-Americans are underrepresented in large-scale genetic and neuroscience studies. One 2009 analysis revealed that 96 percent of participants in large genetic studies were of European descent. When researchers looked at the matter a couple of years ago, they found that the proportion of people with African ancestry in these studies had increased by only 2.5 percent. Similarly, studies of African-American brains are almost nonexistent.

Why the low participation rate? One reason is that researchers favor populations that are genetically more homogeneous to ensure a study’s accuracy. Individuals of European ancestry are more alike genetically than are African-Americans.

Some experts have posited that African-Americans are less likely to participate in genetic studies due to a lack of trust with the medical community.

At the Lieber Institute for Brain Development, where I work, people can donate the brains of family members who wished to contribute to scientific research. We have the largest collection of African-American brains donated to study mental illness, though it’s relatively small in comparison to the availability of Caucasian brains. In our experience, the donation rate for African-American families is comparable to that of white families, suggesting that lack of trust may not be as widespread as believed.

Without studies focused on the African-American brain, scientists will struggle to fully understand how any possible unique genetic risk in the African-American population translates into prevention and treatment for virtually all disorders that involve the brain, including suicide.

Researchers have to invest in correcting this shortcoming before the personalized medicine train is so far out of the station that the African-American community cannot get on it.

Daniel R. Weinberger, Director of the Lieber Institute for Brain Development and Professor, Departments of Psychiatry, Neurology, Neuroscience and The Institute of Genetic Medicine, Johns Hopkins University

This article was originally published on The Conversation.

Henrietta Everlasting

 

Henrietta Everlasting for Urban Faith

The Immortal Life of Henrietta Lacks uncovers the heartbreaking story of the woman behind one of the most important discoveries in modern medicine. But it’s also a book about the intersection of race, science, and a family’s faith.

On a basic human level, most people desire to leave a legacy. I’ve found myself wondering what kind of impact my life will make on generations to follow. In our families and in our work, we spend a large portion of our lives trying to leave some sort of legacy, often in the form of monetary or material inheritance. But that seems so limiting, like life has been reduced down to money and things. Most of us would agree that we want to leave something far more meaningful than just stuff. But what if your legacy spurred some of the greatest medical discoveries? Most of us would be pleased with this. But what if this legacy had been left completely without your knowledge? How would your descendants approach such a gift? This is the scenario found in the bestselling book The Immortal Life of Henrietta Lacks by Rebecca Skloot.

Skloot, a science writer whose work has appeared in The New York Times Magazine, O, The Oprah Magazine, and Discover, gives the reader an intimate look into the life of Henrietta Lacks, an African American woman born in 1920 who, without knowing it, helped transform medical history. In February 1951, she was diagnosed with an aggressive form of cervical cancer. During a medical visit, her doctor took a biopsy of the tumor growing on the outside of her cervix without informing her. Henrietta died later that year, but by that time scientists had discovered that her cells had a very important trait: they didn’t die. The HeLa cells (pronounced hee-lah) reproduced at an astounding rate and had already started yielding scientific data before Henrietta’s death. Her life had ended, but the tissue she left behind soon earned designation as the first strand of immortal cells.

Skloot’s fascinating book is not only the story of Henrietta’s life, but the life of her immortal cells and their journey through the medical community. And an incredible journey it was.

HeLa cells are directly responsible for the development of multiple medical breakthroughs, from the Polio vaccination to in-vitro fertilization. Despite all that her cells have done, many people, including the medical and scientific community, had no idea who she was. Skloot does an impressive job of relaying complex medical truths in a way that doesn’t stall the reading. Told in an alternating-chapter format that shifts between the story of the HeLa cells and the lives of Henrietta Lacks and her family, the book is as gripping as it is informative.

I found myself heartbroken over the struggles of Henrietta’s husband and her children, who paint a stark picture of a dysfunctional family. They endure a string of health and financial challenges after Henrietta’s death. None of her children developed cancer, but they were riddled with a number of other health problems. Unfortunately, they lived most of their adult lives without the benefit of health care. Their mother’s contribution impacted millions but never fully trickled down to her own family.

Though Skloot’s primary goal was to tell the story of Henrietta and her cells, she also accomplishes another feat. She offers a glimpse into how medicine has been practiced throughout history. Like me, readers of this book will gain a greater appreciation of the blessings of modern medicine. Skloot not only exposes what we would consider barbaric medical practices, she also reveals how African Americans perceived doctors and medical treatment over the years. In the past, most went to doctors but did not question the diagnosis or opinions that medical professionals gave them, in part because of the legacy of slavery that spawned a passive and compliant demeanor toward authority figures. Several times in the book it becomes clear that Henrietta’s children never outgrew this mindset, as they repeatedly stated that they simply accepted whatever the doctor said because they felt they couldn’t ask questions.

There are some who might hear Henrietta’s story and cry injustice. Most of the procurement of Henrietta’s specimens happened without her or her family’s permission. Skloot takes a neutral stance on the issue of medical consent, but she does raise some thought-provoking issues. As of right now, it is completely legal for doctors to use anyone’s biological material for whatever research they desire. Scientists and even former President Bill Clinton have pushed for some kind of consent form that notifies patients that doctors will be using their specimens, but the idea hasn’t taken hold.

As I read this book, I found myself torn regarding the issue of consent. On the one hand, it is disturbing to think that the biological materials we leave behind at a hospital could be harvested and exploited by a biotech company that goes on to make untold millions off of our cells, as was the scenario in the Henrietta Lacks case. On the other hand, if our specimens can contribute to advancements in medical research that will benefit the greater society, then shouldn’t we embrace that — as long as no one unfairly profits from it financially?

As of this date, Henrietta’s children have received no financial benefits from anything her cells did. How much money biotech companies have made from her cells over the years is still a mystery.

I wanted to believe that I was reading a page from the distant past when I picked up The Immortal Life of Henrietta Lacks. Unfortunately, as the book progressed, I realized the subject is still very relevant to us today. Race and consent are ongoing issues in the medical community when it comes to scientific research. But perhaps with Skloot’s book these issues will come to the forefront of our discussions in the African American community. Then maybe Henrietta Lacks’ story will do as much for the cause of justice as her cells have done for science.
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‘I Read the Bible for the First Time’

How Henrietta Lacks’ story changed Rebecca Skloot.

Author Rebecca Skloot (right) recently talked to the Atlanta weekly Creative Loafing about the making of her bestselling book. In the interview, she explained how the religious beliefs of Henrietta Lacks’ family affected her personally.

SKLOOT: [Writing the book] was an 11-year process and it has changed me and affected me in ways I’ll be trying to figure out for years. I came from a non-religious background, a completely different culture than [Henrietta’s daughter] Deborah. The religion was so surprising to me. It was such an important part of their story and their lives and their understanding of the self. I just knew nothing about it and in the process of learning I read the Bible for the first time. I went to the church with [the Lacks family] and I saw faith healings; things I had never been exposed to. I spent a lot of time learning about what their religion and spirituality meant for them and how that interacted with the science.

I think I learned a lot about religion just in general and about lots of different ones and the roles they play in people’s lives and the ways they can be incredibly positive and helpful. With the family that’s a lot of how they came to terms with what happened with the cells: They believe she was chosen and came back as an angel in these cells to cure diseases. In terms of the family, it’s still happening. They are still responding to the book and there are now generations of Lackses that have read the book. Several of them have read it many times. The grandchildren have been reading the book out loud to their parents cause they don’t read so much so that’s been a great thing for them. Now they’re able to see the full story — what are these cells and how are they used. To see how people are responding to the story serves as some kind of validation to what they’ve been through that they’ve never gotten before.

Source: CreativeLoafing.com; photo by Manda Townsend.

Giving Back

To thank the Lacks family for their trust and help in the writing of her book, and as a way to thank Henrietta Lacks for the cells that have done so much to further science, author Rebecca Skloot has set up the Henrietta Lacks Foundation to provide financial assistance in the form of scholarships to the descendants of Lacks. Skloot is donating a portion of the book’s proceeds to the foundation. You can read more about it or donate at henriettalacksfoundation.org.