graphic of DNA fingerprinting

Responsibility, culpability, and parental views on genomic testing for seriously ill children

Janet Malek, PhD
Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX

Imagine being a parent and finding out your child is seriously ill.  Imagine how it feels to sit in a chair in the doctor’s office and hear the news that your child has cancer.  Imagine the worry and guilt you might feel and how these thoughts and emotions might shape your reactions to whatever comes next.

Being a parent comes with a special set of obligations to protect and promote the well-being of your child. A cancer diagnosis puts those obligations front and center, making it impossible to repress questions about what you could have done differently and what you can do to help your child moving forward.

Enter genome-scale sequencing (GS).  Both sequencing of blood – sometimes called germline sequencing (to find gene changes that the child was born with and that might be passed from parent to child) as well as tumor sequencing (to find gene changes that happen randomly in the cells of the body which may cause the tumor to develop) are being used more and more often in clinical settings.  The idea is that this genetic information will help doctors discover what caused a patient’s condition and give clues about how to treat it, even for cancer.  Parents are increasingly be given the option to have their child undergo GS as the technology becomes less expensive and more useful.

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Image of binary and dna

Assessing genetic relationships between academia and industry

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

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

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

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

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?

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

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

children with down syndrome smiling

Many Families with Down syndrome Children Would Consider Gene Modification, but with Serious Concerns

By Marsha Michie, PhD and Megan Allyse, PhD

Scientists and bioethicists have been talking a lot recently about CRISPR/Cas9 and related technologies to alter genomes. But the voices of patients and families, especially those with genetic conditions, haven’t been nearly as audible in these conversations about so-called “gene editing”—despite calls for these voices from the National Academies and others.

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23 and me boxes

You Received Genetic Test Results from Direct to Consumer Companies or from Research – Will Your Doctor Be Happy to See You?

By Ellen W. Clayton

You recently responded to a TV advertisement by a direct to consumer (DTC) genetic testing company because you wanted to find more of your relatives. The company also offered to send you your genomic data.  Although not what you originally had in mind, you decided to send the data to another DTC company for interpretation to learn more about your health. Unfortunately, you were told that you are at risk for a condition you had never heard of.  Even though the company sent some educational information, you quickly decided to call your doctor for more information and to start prevention or treatment.

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