Category: Genetics in Medicine

Doctor, DNA, microscope concept illustration.

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

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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.

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Assessing genetic relationships between academia and industry

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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.

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close up of DNA fingerprints

DNA databases, cracking crimes, and confidentiality

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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.

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

Time to Ban Heritable Genome Editing

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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.

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Group of people of various ages and ethnicities sitting in a circle talking. At least one of the people is in a wheelchair.

Rethinking Inclusivity in Precision Medicine Research: The Disability Experience and Barriers to Participation

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By Maya Sabatello and Paul S. Appelbaum

One of the most important aspects of precision medicine research is its focus on inclusion of diverse groups. The reality is that without cohort diversity, it will be impossible for precision medicine research to deliver on its promise to provide prevention and therapeutic options that are tailored to each individual’s genetic makeup, environment, and lifestyle choices across diverse groups. And, as the scientific community, including the national All of Us Research Program, increasingly has come to realize, for precision medicine to reduce—rather than magnify—health disparities, it is critical to ensure that historically marginalized communities are included in this research endeavor. Read More

Dna test infographic. Genome sequence map, chromosome architecture and genetic sequencing chart abstract data. Molecule structure genetic test.

Ethnic Identity and Genomics Research: Toward Creating Culturally Sensitive Policies and Practices

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By Erin Turbitt and Megan C Roberts

Genomic discoveries are rapidly entering healthcare, further propelled by large nationally funded initiatives such as the “All of Us” program. However, minority groups risk not benefiting from these discoveries to the same degree as individuals of European descent. This is because most genomics research involves European descended individuals and genomic databases largely consist of data from these studies. Read More

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?

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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

Doctors and patients sit and talk. At the table near the window in the hospital.

Precision Medicine’s Impact on the Doctor-Patient Relationship

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By Paul S. Appelbaum and Gil Eyal

Healthcare is now entering a much-anticipated era of “precision medicine” (PM), an effort characterized “[b]y taking into account individual differences in lifestyle, environment, and biology” to “accelerate research and improve health”.

The extent to which these goals are achievable and generalizable has been extensively debated, but often lost in the discussion is the likely impact of PM on the doctor-patient relationship, still the primary means of delivering medical care. As we and our colleagues noted in our recent commentary in Genetics in Medicine, multiple changes are looming in both the doctor’s and the patient’s roles. Here we highlight just two of them: the proliferation of uncertainty and its downloading to the patient; and the diminution in the control and authority of the physician. Read More

Precision Medicine for All? The Need for Disability Inclusion

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By Maya Sabatello

Stakeholders’ engagement is key to achieving the promises of precision medicine research. It is needed in order to establish a sufficiently powered cohort of diverse groups that will allow tailoring disease diagnosis, treatment, and prevention to individual variability in genes, environment, and lifestyle. It is also needed to ensure that research priorities are in sync with the health needs of participants and for curtailing health disparities in the US.

Cognizant of these issues, precision medicine initiatives, including are increasingly investing time and resources to engage potential participants in their studies. the All of Us Research Program (AoU) is exemplary in this regard, focusing in particular on racial and ethnic minorities as well as Native Americans who have been historically underrepresented in genomic research.

But what about people with disabilities?

This question may seem to be off target. After all, persons with disabilities have long been prime targets of genotyping, and their enrollment in genomic research is ongoing.

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Navigating the Research-Clinical Interface in Genomic Medicine: Challenging the Traditional Dichotomy Between Research & Clinical Care

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By Susan M. Wolf & Wylie Burke

Translational genomics challenges the traditional view that research and clinical care are distinct activities that should be governed by separate norms, rules, and law. Beginning with the Belmont Report and emergence of regulations governing the conduct of research with human participants, the conventional view has been that there are fundamental differences between research and clinical care, necessitating distinctive ethical frameworks, regulatory oversight, and legal analyses.

However, a new paper published in Genetics in Medicine reports the first empirical test of this conventional dichotomy in the context of genomics. The paper analyzes empirical data collected by surveying investigators conducting major NIH-funded genomics research projects in the NHGRI/NCI-supported Clinical Sequencing Exploratory Research (CSER) Consortium. Those investigators report their actual practices, experiences, and attitudes in navigating the research-clinical interface. These results reveal how the research-clinical boundary operates in practice and cast serious doubts on the adequacy of the conventional dichotomy. Read More