Tag: genetic counseling

Bioethics News

Family (Still) Matters

New article by our Leila Jamal: “Getting a patient’s relatives involved in the genetic counseling process is imperative in the genomic era.”

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

Dear Mr. President: It’s Time for Your Bioethics Commission

by Craig Klugman, Ph.D.

Last week, seven Democratic members of the U.S. House Representatives sent a letter to the White House asking President Trump to appoint a director to the Office of Science and Technology Policy (OSTP), position that normally serves as the presidential science advisor. The impetus for writing the letter was a communication from the Deputy National Science Advisor that two hoax reports, that tried to undermine climate change, were circulating through the West Wing as “science.” The Congresspersons state “Where scientific policy is concerned, the White House should make use of the latest, most broadly-supported science…Relying on factual technical and scientific data has helped make America the greatest nation in the world.” Among the signers are a PhD in math and a PhD in physics. They hold that the U.S. faces strong questions that revolve around science, both opportunities and threats, and the need for a scientist who can understand and explain the importance of objective fact to the chief executive is essential.

This article led me to think that the U.S. also faces a lot of issues regarding health and medicine and their impact on society. Consider the task of creating a new health plan, CRISPR/CAS-9, in vitro gametogenesis, the threat of Zika, extra uterine gestational systems, legalized marijuana, digital medicine—pharmaceutical computing for treating disease, head transplants, and DYI science are among the bioethical issues that will effect policy in the coming few years. Thus, it is time for President Trump to call for his Presidential Bioethics Commission.

The last bioethics advisory body ended in January 2017, although many of the staff are still winding down the office and archiving the many reports and papers produced.

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

Dueling BRCA Databases: What About the Patient?

The news release Monday morning grabbed my attention:

“Study finds wide gap in quality of BRCA1/2 variant
classification between Myriad Genetics and a common public database.”

Myriad Genetics had been exclusively providing tests, for
$3000+ a pop for full BRCA gene sequencing, for 17 years before the Supreme
Court invalidated key gene patents back in 2013. Since the ruling a dozen or so
competitors have been offering tests for much lower prices. Meanwhile, Myriad
has amassed a far deeper database than anyone else, having been in the business
so much longer. And it’s proprietary.

CLASSIFYING GENE VARIANTS

(NHGRI)

Public databases of variants of health-related genes have
been around for years too. The best known, ClinVar, collects and curates data
from the biomedical literature, expert panels, reports at meetings, testing
laboratories, and individual researchers, without access to Myriad’s database.
ClinVar uses several standard technical criteria to classify variants as
“pathogenic,” “benign,” or “of uncertain significance.” (“Likely pathogenic”
and “likely benign” were used more in the past.)

ClinVar lists 5400 variants just for BRCA1. The criteria
come from population statistics, how a particular mutation alters the encoded
protein, effects on the phenotype (symptoms), and other information.
Bioinformatics meets biochemistry to predict susceptibility. The BRCA1 protein
acts as a hub of sorts where many other proteins that control DNA repair
gather. DNA Science discussed the genes behind breast and ovarian cancers here.

As gene sequences accumulate in the databases and troops of
geneticists and genetic counselors annotate them, the proportion of pathogenic
and benign entries will increase as that of the unsettling “variants of
uncertain significance” — VUS — will decrease.

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

Dueling BRCA Databases: What About the Patient?

The news release Monday morning grabbed my attention:

“Study finds wide gap in quality of BRCA1/2 variant
classification between Myriad Genetics and a common public database.”

Myriad Genetics had been exclusively providing tests, for
$3000+ a pop for full BRCA gene sequencing, for 17 years before the Supreme
Court invalidated key gene patents back in 2013. Since the ruling a dozen or so
competitors have been offering tests for much lower prices. Meanwhile, Myriad
has amassed a far deeper database than anyone else, having been in the business
so much longer. And it’s proprietary.

CLASSIFYING GENE VARIANTS

(NHGRI)

Public databases of variants of health-related genes have
been around for years too. The best known, ClinVar, collects and curates data
from the biomedical literature, expert panels, reports at meetings, testing
laboratories, and individual researchers, without access to Myriad’s database.
ClinVar uses several standard technical criteria to classify variants as
“pathogenic,” “benign,” or “of uncertain significance.” (“Likely pathogenic”
and “likely benign” were used more in the past.)

ClinVar lists 5400 variants just for BRCA1. The criteria
come from population statistics, how a particular mutation alters the encoded
protein, effects on the phenotype (symptoms), and other information.
Bioinformatics meets biochemistry to predict susceptibility. The BRCA1 protein
acts as a hub of sorts where many other proteins that control DNA repair
gather. DNA Science discussed the genes behind breast and ovarian cancers here.

As gene sequences accumulate in the databases and troops of
geneticists and genetic counselors annotate them, the proportion of pathogenic
and benign entries will increase as that of the unsettling “variants of
uncertain significance” — VUS — will decrease.

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

Lifestyle genetics

A recent article in the Atlantic titled “The DNA Test As Horoscope” discusses the current trend of developing nonmedical DNA tests. I had already been somewhat skeptical of the consumer DNA tests purporting to help people to find their ancestry and those giving people a general health profile without the burden of specific genetic counseling, but I was not aware that a person could pay… // Read More »

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

In the Journals – December 2016, Part II by Anna Zogas

Here is the second part of our article roundup for December (find the first set of articles here). Happy reading, and happy new year!

New Genetics and Society

Redrawing the boundary of medical expertise: medically assisted reproduction and the debate on Italian bioconstitutionalism
Volha Parfenchyk

In 2004, the Italian Parliament passed a controversial law on medically assisted reproduction (Law 40/2004). The Law obliged clinicians to create a maximum of three embryos during one in vitro fertilization (IVF) cycle and transfer them simultaneously into the patient’s uterus. With this “three embryo” standard, the Parliament sought to secure the realization of rights of IVF embryos. Drawing on the concepts of boundary-work and bioconstitutionalism, this article explores the role that the constitutional obligations of the Italian State towards its citizens, including IVF embryos as its new “citizen subjects,” played in how it envisaged and demarcated the professional boundaries of medical expertise. It argues that the latter depended upon how it balanced its commitments to protect the rights of IVF embryos and those of adult citizens. As such, the demarcation of the jurisdictional boundaries of medical expertise, and the definition of constitutional rights, formed two sides of the same governing project.

Traveling questions: uncertainty and nonknowledge as vehicles of translation in genetic research participation
Klaus Hoeyer

In this paper, I argue that uncertainty and nonknowledge, and not just research results, can be important vehicles of translation through which genetic research participation comes to affect the lives of research participants. Based on interviews with participants in a genetic research project, I outline epistemic, emotional, relational and moral implications of research participation.

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

Modern Pregnancies and (Im)Perfect Babies

by Stephanie A. Kraft, JD

The modern experience of pregnancy is distinctly “not your mother’s pregnancy”. Ever-expanding options for carrier, prenatal, and newborn screening offer today’s pregnant women countless choices when it comes to genetic testing—choices that were unheard of, even unfathomable, just a generation ago.

Prenatal screening and diagnosis have long challenged the tension between individual reproductive autonomy and society-wide respect for persons with disabilities. New genetic and genomic technologies have the potential to either heighten or relieve this tension, depending (in part) on how they are implemented. Shakespeare argues that the advent of prenatal whole genome sequencing can remind us that “everyone is potentially disabled” due to one genetic mutation or another, but at the same time he cautions that the widespread use of this technology may lead parents to focus on individual genetic imperfections rather than accepting their children as the “flawed, vulnerable, limited and mortal” people that they are. “No baby is perfect,” he writes as a reminder to the modern pregnant woman who might be considering how to navigate her prenatal genomic options.

As a modern pregnant woman myself, I read Chen and Wasserman’s target article with both academic and personal interest. Chen and Wasserman propose an unrestricted framework, bolstered by a robust informed consent process, for the eventual clinical implementation of noninvasive prenatal whole genome sequencing (NIPW). They argue that by not limiting testing by severity of conditions, their approach will neither devalue the lives of individuals with disabilities nor encroach on reproductive autonomy. Some commentators applaud their framework’s potential to minimize biases against people who have subjectively “bad” genetic conditions.

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 News

Want a BRCA Test? Some Insurers Require Genetic Counseling First

September 14, 2016

(NPR) – Health care providers and insurers agree that it’s in everyone’s best interest to refer women for genetic testing if their family history of breast or ovarian cancer puts them at higher risk. What they don’t agree on is what should happen before testing — whether women need to be advised by a certified genetic counselor or someone with similar training before the test is ordered.

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 News

China to Establish Newborns, Embryos Genome Databases

August 8, 2016

(Xinhuanet) – A genome project for newborn babies was launched in Shanghai on Sunday, to aid the early identification and treatment of hereditary diseases. Jointly initiated by Chinese Board of Genetic Counseling and Children’s Hospital of Fudan University in Shanghai, the project will carry out genetic testing on 100,000 newborn babies over the coming five years.

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 News

Genetic Counseling: A Growing Area of Opportunity

June 14, 2016

(Science) – For scientists who want to use their genetics knowledge to help patients while also potentially keeping a foot in research, genetic counseling can offer uniquely rewarding career opportunities. It is still a young profession, with few Ph.D. holders having made the transition thus far, but it presents exciting options to those who make the leap. Today, the number of genetic counselors remains small across the globe. In 2014, 2400 genetic counselors were employed in the United States, according to the U.S. Bureau of Labor Statistics, and the American Board of Genetic Counseling (ABGC) currently counts more than 4000 certified professionals in the United States and Canada.

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.