Tag: Genetics

Society or population, social diversity. Flat cartoon vector illustration.

European Skew in Genetic Research Databases Won’t Abate Without More Concerted Effort

Robert Field Leave a comment

By Robert I. Field, Anthony W. Orlando and Arnold J. Rosoff

The “pangenome” project that is mapping the genetic sequences of 47 diverse human beings from around the world is a much-needed step forward for science and humanity. The lack of racial diversity in genetic databases used in research has been noted for some time, and it has raised growing concerns about the development of clinical applications based on research results. The pangenome does not eliminate these concerns, but it calls greater attention to the significant racial underrepresentation that remains in most databases currently used in research.

For genomic medicine to have widespread effectiveness, it is important that it be based on the study of a diverse pool of subjects. This is especially true in the development of “precision medicine,” in which therapies are tailored to a patient’s genetic characteristics. If a patient’s genetic traits are not represented in a database that was used for the research that led to a treatment, that treatment may be less effective or even risky for them.

Black Americans, as well as members of other racial and ethnic minorities, are most commonly underrepresented in medical research, yet they are the ones most vulnerable to the effects of such underrepresentation. This can create yet another instance of racial disadvantage in health care. However, a recent study of genetic researchers found that investigators tend to give only limited consideration to demographic diversity when selecting a database to use, with more attention paid to ease of access and other logistical considerations.

Read More

Blue biohazard sign in front of columns of binary code.

The International Weaponization of Health Data

Matthew Chun Leave a comment

By Matthew Chun

International collaboration through the sharing of health data is crucial for advancing human health. But it also comes with risks — risks that countries around the world seem increasingly unwilling to take.

On the one hand, the international sharing of health-related data sets has paved the way for important advances such as mapping the human genome, tracking global health outcomes, and fighting the rise of multidrug-resistant superbugs. On the other hand, it can pose serious risks for a nation’s citizens, including re-identification, exploitation of genetic vulnerabilities by foreign parties, and unauthorized data usage. As countries aim to strike a difficult balance between furthering research and protecting national interests, recent trends indicate a shift toward tighter controls that could chill international collaborations.

Read More

Colorful lottery balls in a rotating bingo machine.

Equalizing the Genetic Lottery?

James Toomey Leave a comment

By James Toomey

Kathryn Paige Harden’s The Genetic Lottery: Why DNA Matters for Social Equality is a thoughtful, thorough, and well-written book about the compatibility of behavioral genetics with progressive ideology. Weaving together her own fascinating work in genetics with Rawlsian political philosophy, Harden’s book is necessary reading for anyone interested in inheritance or politics — which, I suppose, is everyone.

The basic argument of the book is that the so-called First Law of Behavioral Genetics is correct — everything is heritable. Harden supports this claim with a wealth of research in genetics over the past few decades, with an emphasis on her own contributions (“within a group of children who are all in school, nearly all of the differences in general [executive function] are estimated to be due to the genetic differences between them”). More importantly, Harden does not think this fact has the implications for normative politics that many, particularly on the left, worry it does. The fact that some genetic profiles cause higher general intelligence — or anything else — does not mean those who have them are better or more deserving of society’s bounty and social prestige. We can, and should, adopt “anti-eugenic” policies designed to make better as much as possible the lives of the genetically “unluckiest.”

Accepting Harden’s descriptive premises, I find her political theory basically right. But the book elides a crucial distinction in left-leaning political thought that, I think, misses something about why so many on the left find the prospect of the heritability of mental characteristics so troubling, and which perhaps diminishes the book’s ability to persuade its target audience (which, frankly, is not me, having been already convinced on much of this by The Blank Slate).

Read More

Doctor, DNA, microscope concept illustration.

Reclassification of Genetic Test Results: Potential Time Bombs in the Medical Record? 

Genetics in Medicine Leave a comment

By Ellen Wright Clayton

Findings from genetic tests are not static; as knowledge advances, our understanding of the implications of these results evolves.

But what this means for physicians and their duties to patients is unresolved, as I explain with co-authors in a new article in Genetics in Medicine, the official journal of the ACMG.

There is an increasing drumbeat of support for an ethical and legal duty for physicians to reinterpret genetic test results and re-contact patients about these new understandings to improve their care.

Currently, reviewing prior medical records is by no means routine. Clinicians may review past records if they suspect that they have missed something as symptoms evolve, or that the significance of a symptom or biomarker may have changed because of new research.

Read More

Scientist analyzes DNA gel used in genetics, forensics, drug discovery, biology and medicine

Transplant Genomics: Ethical, Legal, and Social Implications

The Petrie-Flom Center Staff Leave a comment

By Tamar Schiff

The appeal of precision medicine is of particular significance in transplantation. Treatment options are already integrally dependent on genetic factors – the donor-recipient match – and the demand for transplantable tissues far outstrips the available supply.

And the potential is only growing. Advances in genetic and genomic studies have identified an increasing number of novel biomarkers of potential use in transplant-related care. These include predictors of disease course, graft survival, response to immunosuppression, and likelihood of disease recurrence or other complications.

With wider availability of sequencing technologies and innovations in databanking, future clinical applications in transplant care may require ever-growing considerations of the significance of genetic variants, fair access to precision medicine therapeutics and participation in research, ethical approaches to data aggregation, and social determinants of health.

Read More

Close up of a mosquito sucking blood on human skin. This mosquito is a carrier of Malaria, Encephalitis, Dengue and Zika virus.

Responsibly Developing Gene Drives: The GeneConvene Global Collaborative

James Toomey Leave a comment

By James Toomey

Researchers believe that gene drives could eliminate vector-borne diseases such as malaria, by modifying mosquito species or eradicating those that carry disease, kill off invasive species, and combat the growing problem of pesticide resistance.

A gene drive is a technique for genetically modifying entire species of wild organisms. Genetically modified individuals of the species are released into the wild, so as to raise the probability that a particular gene will be passed onto the species’ progeny via reproduction.

Over the course of many generations, the gene — even if detrimental — can spread to an entire population.

But as of now, this is all hypothetical. No gene drive has been tested in the wild, and many people are skeptical that they should ever be used.

The GeneConvene Global Collaborative, a project of the Foundation for the National Institutes of Health, was started this past July to promote the responsible development and regulation of gene drive technologies. It brings together researchers, regulators and stakeholders around the world to develop best practices for gene drive research and implementation.

Because of my prior writing on this topic, I participated in GeneConvene’s fall webinar series and spoke with scientists there about the project. Read More

Doctor, DNA, microscope concept illustration.

Legislative Success in FL Suggests Time is Ripe for Further Genetic Nondiscrimination Protections

Genetics in Medicine Leave a comment

By Anna C F Lewis and Anya E R Prince

On July 1, a law banning the use of genetic information by life, long-term care, and disability income insurers took effect in Florida.

Florida’s success marks a potential turning point of bipartisan appeal for this issue.

The passage of this law, which we explore in a recent article published in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics (ACMG), was propelled by a campaign that argued that an individual’s DNA should not be weaponized against them, that affordable insurance shouldn’t just be for the genetic elite, and that an individual should be able to keep their genetic data private.

Read More

Image of binary and dna

Assessing genetic relationships between academia and industry

Genetics in Medicine Leave a comment

By Kayte Spector-Bagdady JD, MBioethics
Department of Obstetrics & Gynecology; Research Ethics Service, Center for Bioethics & Social Sciences in Medicine, University of Michigan Medical School, Ann Arbor, MI

With recent reports of Google’s data deals with Ascension health and the University of Chicago, there has been a lot of attention paid recently to the sharing and use of health data by unexpected entities.

But we know that patients are uncomfortable when hospitals “commercialize” or sell their health data or biospecimens to industry. In fact, the recent revisions to the human subjects research regulations included a specific biospecimen commercialization disclosure requirement.

Read More

close up of DNA fingerprints

DNA databases, cracking crimes, and confidentiality

Genetics in Medicine Leave a comment

By: Leslie E. Wolf, JD, MPH, Georgia State University College of Law, Interim Dean and Distinguished University Professor and Laura M. Beskow, MPH, PhD, Ann Geddes Stahlman Chair in Medical Ethics, Center for Biomedical Ethics and Society, Vanderbilt University Medical Center

In our article, Genomic databases, subpoenas, and Certificates of Confidentiality, published in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics (ACMG), we considered the protections available to research genomic databases in light of law enforcement’s use of ancestry databases to help solve crimes.

Read More

Scientist analyzes DNA gel used in genetics, forensics, drug discovery, biology and medicine

Time to Ban Heritable Genome Editing

Genetics in Medicine Leave a comment

By Jeffrey R. Botkin, MD, MPH, Professor of Pediatrics and Medical Ethics at University of Utah

We are at a critical crossroad in reproductive medicine.  How should science and society more broadly manage the powerful new technologies that can alter the genes of human embryos?  In a recent paper published in Genetics in Medicine, the official journal of the American College of Medical Genetics and Genomics (ACMG), I argue that banning the use of this technology editing human embryo is the right direction.

Concerns over theoretical capabilities of “designer babies” have been with us for generations.  The ability screen and test for embryos and fetuses with undesirable characteristics and forestall their birth is well-developed and familiar. But the actual ability to add, subtract or alter genes in the embryo is quite new.  The CRISPR-Cas9 technology and related technologies burst on the scene in the last decade and the ability to relatively easily and cheaply to alter human embryos is no longer science fiction.

Read More