Image of Normal blood cells next to a sickle blood cell, colored scanning electron microscope image.

Recharting the Course of Sickle Cell Disease – Who will Benefit?

By Vence L. Bonham and Anitra Persaud

Scientific advancements in gene therapy and the implications of leveraging this technology to develop new curative therapies are at the forefront of medical research. Sickle cell disease (SCD), the most common genetic blood disorder, stands center stage. Last month, 60 Minutes aired a segment showcasing the story of a patient at the NIH Clinical Center who is on her journey to a cure of sickle cell disease (SCD) with the help of an experimental gene therapy.

Preliminary clinical trial findings suggest that gene therapy has an acceptable level of safety and can help individuals with the disease produce normal red blood cells instead of the sickle-shaped ones that underlie the physiological basis of the disease and its complications. Given these promising results, there is hope that gene therapy may catalyze a turning point for the SCD population, a community that has long suffered the debilitating effects of not only their disease, but of longstanding neglect within the medical system and research enterprise. Read More

close up of human eye

The Luxturna Debate: Why Ethics Needs a Seat at the Drug Pricing Table

By Clio Sophia Koller

Jack Hogan can now ride his bike home at dusk after an afternoon of playing with his friends. Is that childhood rite-of-passage worth $850,000?

Recently, the Health Policy and Bioethics Consortium convened by Harvard Medical School’s Center for Bioethics and the Program on Regulation, Therapeutics, and Law (PORTAL) at Brigham and Women’s Hospital met to discuss the implications of Spark Therapeutics’ new gene therapy treatment—along with its staggering price tag.

Luxturna, a novel therapy approved by the FDA last year, treats a rare form of inherited blindness known as retinitis pigmentosa. The therapeutic agent targets the RPE65 gene, associated with the disorder, and is shown to improve vision in a population with progressive vision-loss and an inability to see in dim light. Read More

What’s in a name? Why metaphors matter for genetics research

By Mildred K. Cho, PhD

In 2017, the US FDA approved a gene therapy for the first time. However, it’s important to remember that the term “gene therapy” has been an optimistic misnomer for nearly 30 years, since the first clinical trial of a gene-based intervention was initiated in 1990.  Although the FDA has now approved a handful of gene-based therapies, there are concerns about the viability of the approach in actual clinical practice.

Because of the decades-long struggles of the technology to live up to its hype, the term “gene therapy” has been heavily criticized for encouraging the “therapeutic misconception” and for conveying unwarranted “therapeutic optimism.” In addition, there is evidence of how clinical trial participants and investigators both overestimated benefits from research but also how research was framed as treatment.  As a result, many recommended the alternative term “gene transfer” to more accurately represent the purpose and benefit of the intervention.  We may never know exactly how much the use of the term “gene therapy” contributed to potential bias in perceptions of effectiveness and intent, but it does highlight the potential impact of language on the ethical conduct of research.

Similarly, the rhetoric surrounding the genetic “revolution” has been justly criticized. Our research published in Genetics in Medicine, the peer-reviewed journal of the American College of Medical Genetics and Genomics (ACMG), suggests that researchers and advocates should not only avoid hyperbole, but also be more cautious and reflective about the use of metaphors.  We asked patients in a Northern California health system to tell us what the word biobank made them think of, and received a range of notable responses.  Some people associated the term with financial banks or gold mines, and others expressed suspicion of commercial motives of pharmaceutical or insurance companies for collecting and using biosamples.  Others associated the term with computers or databases, and some may have been misled by the association of biobank with the concept of electronically-accessible information, saying that a benefit of a health system’s research biobank-linked database was that patients could look up personally-relevant information in it directly and therefore not have to see a doctor. Read More

Sloppy Thinking about Genetic Therapy

By David Orentlicher
[Cross-posted at Health Law Profs blog]

As NPR reported this morning, researchers in England may soon use genetic therapy to treat diseases that result from defects in mitochondrial DNA.

Mitochondria create energy for cells, and they have their own genes, distinct from the genes that help determine our looks, behavior, and other traits. Because mitochondrial activity is critical to normal cell functioning, abnormalities in mitochondrial DNA can be devastating. Some babies die in a matter of hours.

But because the therapy involves genetic manipulation, it is controversial. While critics are right to insist that we proceed carefully with genetic therapy, many of their arguments are misguided.  Read More