Tag: medical genetics

Bioethics Blogs

“Moonshot Medicine”: Putative Precision vs. Messy Genomes

Like so many medical terms, “precision medicine” is a combination of both wishful thinking and obfuscation.  In this case, it also carries a somewhat unsettling suggestion: if medicine has not up until now been precise, then what has it been? 

Precision medicine started being touted in the specialized journals in the late aughts as part of a “new era” being ushered in by coordinated and integrated care, fiscal transparency, and patient-centered practice.  It was one of a suite of approaches that promised to bring costs down while improving outcomes.   The idea was that by looking at drugs and other therapies according to how they succeeded (or didn’t) in people sharing particular gene variations and similar physical traits, physicians could make more intelligent choices patient-by-patient, selecting the treatment with a greater chance of working. 

Big Pharma saw promise in the approach and made strategic partnerships (Pfizer and Medco Health Solutions in 2011, for example, and Novartis and Genoptix that same year); startups and researchers rushed to secure patents; while medical groups such as the American Society of Clinical Oncology devoted sessions at their annual conferences to precision medicine’s potential benefits now that speedier gene sequencing was bringing costs down sufficiently to make it possible to contemplate tailor-making cancer drugs.

At the same time, some in the burgeoning field saw major structural hurdles.  For example, most work on biomarkers—the substances or physical signs that a disease is present or a drug is working—is done in university and government research labs, and it takes time for any given biomarker to be proven accurate, as well as to be adopted by physicians in the clinic. 

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Key Notes From a Keynote: 20+ years Living in My Genes

By Kathy Banks, BSc, MSc, continuing review coordinator, animal ethics, University of British Columbia 

PRIM&R is pleased to share a post from Kathy Banks, a member of the PRIM&R Blog Squad for the 2015 Institutional Animal Care and Use Committee (IACUC) Conference. The PRIM&R Blog Squad is composed of PRIM&R members who blog here, on Ampersand, to give our readers an inside peek of what happened at the conference in Boston, MA.

Gene therapy! We can cure ALL the diseases! More than 20 years ago, this was (and still is, honestly) a fanciful notion, but targeted therapeutics was one of the newest advances in genetics. At the time, it was a field of study that found me (instead of me finding it), and I was smitten. The first gene therapy treatment was done in 1990, and it was HUGE news. When I started graduate school in 1996 (at University of British Columbia, in the Department of Medical Genetics), I was immediately plunged into this “new field” of research. One of my graduate classes was about gene mutations that result in diseases with classic genetic inheritance patterns, including cystic fibrosis (CF) caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

When I read that David K. Meyerholz, DVM, PhD, was one of the keynote speakers at the 2015 IACUC Conference, I knew his talk was something I could not miss. He studies lung diseases (asthma runs in my family), including CF. CF is a disease which has become much more personal for me as the daughter of a friend has it.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Universal Newborn Genome Sequencing and Generation Alpha

I have been struggling with why the idea – and likely coming reality – of universal newborn genome sequencing disturbs me. It’s finally crystallized: the practice could create a genetic underclass.

On the day that genome sequencing of all newborns begins, a cohort of individuals about whom a tremendous amount of personal information exists will be instantly created. At the same time, the practice will establish a shrinking cohort of most of the rest of us who do not know our genome information.

A century from now, possibly everyone will have access to her or his genome data. But until then, how can we prepare to handle the avalanche of information of what I’d call, if I were a science fiction writer, “generation Alpha?”

My idea of the Alphas is inspired by the 1992 dystopian novel The Children of Men, by P.D. James. In 1994, all human sperm suddenly die, and 1995 becomes Year Omega. After that, populations plummet in the face of global infertility, with the last remaining people, the Omegas, struggling towards inevitable extinction.

What will happen in our world as the Alphas age? For now, mining sequenced genomes is experimental and seeks to end the “diagnostic odysseys” endured by patients, typically children with rare or one-of-a-kind diseases . But just as opening a magazine can reveal much more than the article one is looking for, a genome sequence provides hundreds of thousands of gene variants that might mean something about a person’s health. And so the American College of Medical Genetics and Genomics lists 56 “actionable” secondary (“incidental”) conditions, a minimal menu of conditions which doctors can prevent or treat.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Meet the PRIM&R Blog Squad: Kathy Banks

PRIM&R is pleased to introduce the members of the Blog Squad for the 2015 Institutional Animal Care and Use Committee (IACUC) Conference. The Blog Squad is composed of two PRIM&R members who will be blogging live from the conference.

We are proud to introduce you to the first Blog Squad member, Kathy Banks, BSc, MSc, continuing review coordinator, animal ethics at the University of British Columbia (UBC), Vancouver, BC, Canada.

Greetings from Vancouver, BC, Canada where the sun is (kind of) shining, it’s almost 10°C (~50°F), the flowers are blooming, and my allergies are already acting up! This is my first official blog as part of the PRIM&R Blog Squad for the 2015 IACUC Conference, which is also my first ever PRIM&R conference. I hope you join me on this journey both here and in-person at the conference.

I grew up in Kamloops, BC, a smaller city in the interior of the province, where I received my undergrad degree in general biology before moving to Vancouver and UBC in 1997 to complete my master of science in medical genetics. After graduating, I worked as a research technician/lab manager in a neurogenetics lab for 11 years, where I developed several unique strains of transgenic mice, derived several new lines of murine ESCs, and published nine peer-reviewed scientific articles. Working in the lab was also my introduction to the ethics of research, as I was responsible for submitting all of the lab’s ethics approval applications (including animals, biosafety, and human).

I made the switch to the compliance side in 2011, joining the UBC Post-Approval Monitoring (PAM) Program based out of the Office of Research Services, as the continuing review (PAM) coordinator, animal ethics.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Biopolitical News of 2014

2014 has been another busy, and decidedly mixed, year in biopolitics.

Some technical advances suggest that gene therapies and genomics-based personalized medicine may be coming closer, while a few advocates seize on the same news to speculate about making irreversible, dangerous, and socially pernicious changes to the human genome.

The need for regulation of new human biotechnologies became both more obvious and more widely accepted this year, but simultaneously there were efforts (which may succeed in the UK) to shatter long-accepted norms by allowing a form of inheritable genetic modification based on nuclear genome transfer techniques.

Other biopolitical developments also abounded, from commercial surrogacy, egg freezing parties and early-pregnancy fetal gene tests, to police DNA databases and resurgent claims about race as biology. These and yet more new biotech products and practices bring us ever closer to unprecedented personal and societal dilemmas and decisions. 

The Center for Genetics and Society (CGS) continues to monitor all of these developments, and attempts to encourage their responsible usage and effective societal governance. Many of the following issues inevitably blend into each other, but here is a brief overview of the most important biopolitical developments of 2014, roughly grouped by topic:

Surrogacy

A number of countries grappled with how to regulate surrogacy in 2014. Ireland published draft surrogacy legislation in February; Toronto saw a boom in surrogacy despite it being only semi-legal; India took further steps to determine how to regulate its huge surrogacy market.

International surrogacy arrangements came under increasing media scrutiny, including a three-part front-page series in The New York Times (1, 2, 3).

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Genetic Testing For All: Is It Eugenics?

In recent weeks, there’s been talk of three types of genetic testing transitioning from targeted populations to the general public: carrier screens for recessive diseases, tests for BRCA mutations, and non-invasive prenatal testing (NIPT) to spot extra chromosomes in fetuses from DNA in the maternal bloodstream.

Are these efforts the leading edge of a new eugenics movement? It might appear that way, but I think not.

When I began providing genetic counseling 30 years ago at CareNet, a large ob/gyn practice in Schenectady, NY, few patients were candidates for testing: pregnant women of “advanced maternal age” (35+), someone with a family history of a single-gene disorder or whose ethnic background was associated with higher prevalence of a specific inherited disease. Their risks justified the cost and potential dangers of the tests.

Now the picture is rapidly changing as plummeting DNA sequencing costs and improved technologies are removing economics from the equation. It’s becoming feasible to test anyone for anything – a move towards “pan-ethnic” genetic screening that counters the “sickle-cell-is-for-blacks and cystic-fibrosis-is-for-whites” mindset.

So here’s a look at three very different types of genetic tests that are poised to make the leap to the general population. And despite new targets revealed with annotation of human genomes, some of the detection technologies themselves are decades old.

#1: CARRIER SCREENING

Population screening for carriers of single-gene diseases has been around since those for sickle cell disease and Tay-Sachs disease in the early 1970s. We learned a lot from their starkly different results. For years, labs such as Athena Diagnostics, the Baylor College of Medicine Medical Genetics Laboratories, Emory Genetics Laboratory, Ambry Genetics, GeneDx and others have added genetic tests to their rosters, which now cover hundreds of single-gene diseases, from A (Alport syndrome) to Z (Zellweger syndrome).

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Regulation of genetic testing in the United States

 Incidental findings and the resulting problems are increasing in magnitude

According to a report by the Presidential Commission for the Study of Bioethical Issues in the United States, companies, clinicians and researchers must inform consumers, patients and study participants of incidental findings in relation to genetic tests and research trials that could affect their health. This report has been released by the Commission itself, as revealed in The Scientist (12 December 2013). Earlier that same year, the American College of Medical Genetics and Genomics (ACMG) had made recommendations on the advisability of alerting patients about 57 genetic diseases that could be accidentally discovered after performing individual genome sequencing. The Presidential Commission has now indicated that the patient has the right to decide whether he or she wishes to know the result of that test. According to Commission member Stephen Hauser, incidental findings and the resulting problems are increasing in magnitude. People who undergo genetic test using whole-genome sequencing should be warned that “Each of us has scores of deleterious mutations in our genes and these will be picked up every time a whole-genome sequence is obtained”. Clinicians and researchers must anticipate that there could be incidental findings in the tests and inform the patients and persons involved before the tests are carried out. The Commission also advocates shared decision-making. Another of the Commission’s recommendations is the creation of disease-risk lists, about which clinicians involved in genetic counselling should be informed; patients should also be advised of their occasional finding in a genetic test and their right to know or not (http://bioethics.gov/node/3183

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.

Bioethics Blogs

Ethics, Genetics, and Autism: A Conversation with Dr. Joseph Cubells

Dr. Joseph Cubells
Dr. Joseph Cubells is an Emory psychiatrist who focuses on working with adults with developmental and behavioral disorders, especially Autism Spectrum Disorders (ASD). He is on the cutting edge of using molecular genetics to identify genetic anomalies in his patients with the aim of improving and refining treatment packages. I spoke with Dr. Cubells about his work and the ethical implications of the use of genetic microarray tests with patients. After providing more details about how he uses molecular genetics in his practice, I will focus on our discussion of two primary issues related to his work: (1) the communication of genetic testing procedures and results to families and, (2) the role of health care systems in the widespread use of these tests. 
Dr. Cubells is primarily engaged in clinic work. He has over 200 cases and works exclusively with adults (he does not see patients under the age of 16). Molecular genetics is one technique used in his patient management strategies: “I am very interested in the role of molecular genetic testing in the care of people with neurodevelopmental disabilities. Not so much establishing a diagnosis of autism though because autism is a behavioral diagnosis.” In other words, because there is no genetic or otherwise biologically based test currently available for autism, Dr. Cubells and his team are interested in diagnosing other genetic differences, such as Phelan McDermid Syndrome which occurs when a chromosome is deleted after conception (de novo) and can lead to a variety of physical and developmental disabilities. This condition, and many other genetic anomalies, may contribute or directly lead to the development of autistic characteristics.

The views, opinions and positions expressed by these authors and blogs are theirs and do not necessarily represent that of the Bioethics Research Library and Kennedy Institute of Ethics or Georgetown University.