Tag: mastectomy

Bioethics News

What I Learned From Home DNA Testing

July 25, 2017

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There may come a time in everyone’s life when they find themselves sitting at the kitchen table on an otherwise unexceptional weekday morning, drooling saliva into a test tube in the spirit of scientific inquiry.

The spit is for one of the home genetic-testing kits I’m sampling. A growing number of these kits (brands such as 23andMe, DNAFit, Thriva, MyHeritage DNA, and Orig3n) promise to unlock the mystery of your genomes, variously explaining everything from ancestry, residual Neanderthal variants, “bioinformatics” for fitness, weight loss and skincare, to more random genetic predispositions, denoting, say, the dimensions of your earlobes or the consistency of your earwax.

More controversially, some of these kits profess to tell you your biological (as opposed to actual age) by measuring the length of your telomeres (in basic terms, the caps at the end of each strand of DNA that protect chromosomes, like plastic tips at the end of shoelaces). Other tests, such as 23andMe, predict higher risks of developing serious conditions, such as multiple sclerosis, Alzheimer’s and Parkinson’s, including the test for BRCA1/BRCA2 (breast and ovarian cancer) that Angelina Jolie famously underwent, going on to have a preventative double mastectomy and surgery to remove her ovaries.

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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 News

Study Finds ‘Striking’ Use of Double Mastectomy

December 21, 2016

(Science Daily) – Nearly half of early stage breast cancer patients considered having double mastectomy and one in six received it — including many who were at low risk of developing a second breast cancer, a new study finds. Many patients who chose double mastectomy demonstrated little knowledge of the lack of benefit this aggressive procedure has for most patients.

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

Angelina Jolie’s Breast Cancer Op-Ed Cost the Health System $14m in Unnecessary Tests

Three years ago, Angelina Jolie announced in a New York Times op-ed that she’d had a preventive double mastectomy after testing positive for mutations in the BRCA1 gene, which put her at an increased risk of breast and ovarian cancers

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

Transsexuality diagnosis and treatment

PDF version

‘The only thing that has been achieved so far is to try to adapt the body to the mind, instead of trying to alleviate the cerebral problem’

Diagnosis

The diagnosis of transsexualism is based on both medical and psychiatric findings, criteria that have been enshrined in medical guidelines, such as the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), drawn up by the American Psychiatric Association, or the tenth edition of the International Statistical Classification of Diseases and Related Health Problems (ICD-10).2

However, before attempting to determine the existence of transsexuality and its possible immediate consequence, gender dysphoria, karyotyping should be performed to try to rule out a chromosome disorder, the result of an enzyme defect, that could lead to sexual ambiguity, as occurs in Turner’s or Klinefelter syndrome.3

According to the DSM-5, in order to diagnose gender dysphoria, there has to be objective incongruity between the sex assigned at birth and the one the individual desires, i.e. a marked difference between the gender that one feels and the one assigned at birth, and this disharmony must persist for at least 6 months.

In the case of children, gender dysphoria can manifest between two and four years old, when affected children can start to express preferences or social attitudes of the sex opposite to the gender to which they biologically belong, but this desire must be determined objectively.

According to World Professional Association for Transgender Health (WPATH) guidelines, the diagnosis of gender dysphoria is an essential condition in order for a person to be able to request sex reassignment surgery.

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

Risky Business: Genetic Discrimination & Insurance

Françoise Baylis discusses the response of the Canadian insurance industry to Bill S-201, An Act to prohibit and prevent genetic discrimination.

__________________________________________

Bill S-201, An Act to prohibit and prevent genetic discrimination, has received the unanimous support of the Canadian Senate. It is now before the House of Commons where it has received all-party support and passed second reading. It has been referred to Committee for review and improvements before the third and final reading.

In brief, there are three parts to the Act. First, there is a prohibition on “requiring an individual to undergo a genetic test or disclose the results of a genetic test as a condition of providing goods and services.” This would stop companies that sell life, critical illness and disability insurance from asking clients to take a genetic test or to share information about genetic tests they may have taken.

Second, there is a proposed change to the Canada Labour Code, namely, “to protect employees from being required to undergo or to disclose the results of a genetic test.” This would stop federally related industries from asking employees to take a genetic test or to share information about a genetic test they may have taken.

Third, there is a proposed amendment to the Canadian Human Rights Act. This Act prohibits discrimination on a number of grounds including race, ethnic origin, sex, sexual orientation, and disability. The plan is to add “genetic characteristics” to this list.

Some people criticize Bill S-201 – most notably insurers. They worry about clients taking a genetic test, getting results that suggest an increased risk of developing a specific “genetic illness” and “bulking up” on insurance.

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

Special Issues: Psy Sciences and Healthism by Anna Zogas

In advance of our regular monthly journal round-up, here are two special issues to check out! First, the brand new June 2016 issue of East Asian Science, Technology and Society is titled Transnational Psy Sciences in East and Southeast Asia. Next, a special double issue of Eä – Journal of Medical Humanities & Social Studies of Science and Technology (open access) is titled Healthism & Self-Care: Reconfiguring Body & Life through Science & Technology. Enjoy!

East Asian Science, Technology and Society

Transnational Psy Sciences in East and Southeast Asia

From the 1970s onward, the psy sciences were witness to blustering confrontations from a New Age movement heavily informed by Asian philosophy. Nowadays, yoga practices and mindfulness training have been integrated into mainstream psychotherapy. Nevertheless, such trends toward East-West admixing are in fact not at all new. Through four case studies, this special issue provides empirical data complementing the abundance of new scholarship on the history of psy sciences in East and Southeast Asia.

Making and Mapping Psy Sciences in East and Southeast Asia (open access)
Harry Yi-Jui WuWen-Ji Wang

The rich history of psy disciplines or psy sciences (psychology, psychiatry, psychotherapy, psychoanalysis) in modern society has been subject to different and sometimes conflicting interpretations. Major events, theories, and figures have been recorded and the meaning of their contributions explored to illustrate the ways in which various forms of psychological knowledge become important sources of self-understanding and self-actualization. Insights into the social and cultural history of psy sciences enable us to understand the interconnection between forms of knowledge and the social order to which they relate (Eghigian et al.

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

BioethicsTV: Mistaken diagnosis, patient battery, “work-arounds,” and trans-gender patient health

by Craig Klugman, Ph.D.

A look at the ethical and professionals issues raised in medical dramas this week: Chicago Med and Heartbeat.

Chicago Med

This new show is always good for presenting challenges in professionalism and bioethics. This week (season 1; episode 16) is no exception as the fictional hospital finds itself in the middle of a surprise Joint Commission visit (though they often refer to the organization as “jay-koh” it’s previous abbreviation). One of the storyline this week deals with a retired neurologist and her husband with Lewy Body syndrome. She diagnosed him originally and took him to see two specialists who confirmed her diagnosis. But the staff at the hospital is confused because he has moments of extreme lucidity and has not declined as much as he should have with this disease. Dr. Charles, the resident font of wisdom and psychiatrist, orders an MRI for the patient. The scan shows not Lewy body but rather a small tumor that is responsible for his observed behaviors.

This storyline demonstrates two professional issue and two ethical ones. The first professional concern is a boundary issue: Don’t treat your own family. As we learn, the neurologist made the diagnosis based on the symptoms she saw and her experience of seeing many patients with that disease. What she didn’t do was order brain scans to support her differential diagnosis. One also wonders if the two specialists actually bothered to examine the patient independently, or did they start the examination with the bias of what their esteemed colleague found?

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

Watch Out for Those Deductibles!

Photo Credit: Cancer Today Magazine

Lots of folks in the U.S. are finding themselves with health insurance coverage that requires them to pay lots of money, in their deductible, before insurance kicks in. Here is a nice piece in Cancer Today Magazine on the topic:

Tammy Pope had already exceeded her health insurance plan’s $5,000 deductible for 2015 by August. She was still facing a double mastectomy for stage III breast cancer when she got into a debate with her oncologist over whether she could skip a magnetic resonance imaging (MRI) test of her brain. The doctor had recommended the MRI because Pope had been falling down, episodes she blamed on her cancer medications.

But the doctor insisted on the scan, saying the malignancy had already proved unexpectedly aggressive, with 23 positive lymph nodes removed during Pope’s lumpectomy. “She said, ‘We don’t know for sure if it has spread, and it does love going to the brain,’ ” as Pope recalls the conversation. “Of course,” Pope adds, “when they put it like that, you’re going to do it.”

Pope, a retail worker in Louisville, Kentucky, was already fielding bills she couldn’t pay for tests that had led to her triple-negative breast cancer diagnosis, as well as the chemotherapy that treated her cancer but left her with severe neuropathy in her hands and feet. And while the MRI showed no signs of brain metastasis, the bills kept multiplying: slightly more than $600 for her portion of the MRI’s cost, roughly $6,500 for various tests that led to her diagnosis, and at least $20,000 for her share of the cost of chemotherapy.

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.