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Showing posts with label Genetic Testing. Show all posts
Showing posts with label Genetic Testing. Show all posts

Monday, December 30, 2019

23 and Baby

Tanya Lewis
nature.com
Originally posted 4 Dec 19

Here are two excerpts:

Proponents say that genetic testing of newborns can help diagnose a life-threatening childhood-onset disease in urgent cases and could dramatically increase the number of genetic conditions all babies are screened for at birth, enabling earlier diagnosis and treatment. It could also inform parents of conditions they could pass on to future children or of their own risk of adult-onset diseases. Genetic testing could detect hundreds or even thousands of diseases, an order of magnitude more than current heel-stick blood tests—which all babies born in the U.S. undergo at birth—or confirm results from such a test.

But others caution that genetic tests may do more harm than good. They could miss some diseases that heel-stick testing can detect and produce false positives for others, causing anxiety and leading to unnecessary follow-up testing. Sequencing children’s DNA also raises issues of consent and the prospect of genetic discrimination.

Regardless of these concerns, newborn genetic testing is already here, and it is likely to become only more common. But is the technology sophisticated enough to be truly useful for most babies? And are families—and society—ready for that information?

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Then there’s the issue of privacy. If the child’s genetic information is stored on file, who has access to it? If the information becomes public, it could lead to discrimination by employers or insurance companies. The Genetic Information Nondiscrimination Act (GINA), passed in 2008, prohibits such discrimination. But GINA does not apply to employers with fewer than 15 employees and does not cover insurance for long-term care, life or disability. It also does not apply to people employed and insured by the military’s Tricare system, such as Rylan Gorby. When his son’s genome was sequenced, researchers also obtained permission to sequence Rylan’s genome, to determine if he was a carrier for the rare hemoglobin condition. Because it manifests itself only in childhood, Gorby decided taking the test was worth the risk of possible discrimination.

The info is here.

Wednesday, September 5, 2018

Are embryos people? The answer will determine the future of reproductive medicine

Eric Forman
Statnews.com
Originally posted July 24, 2018

Here is an excerpt:

The goal of this process is to achieve a healthy child, which now occurs at a remarkably high rate. For specific genetic disorders, preimplantation genetic testing can reduce the odds of having a child with a lethal disorder from 25 to 50 percent to less than 1 percent.

Medicine’s ability to culture embryos and select healthy ones has improved dramatically in the last few years. A clinical trial that I led several years ago showed that transferring a single genetically tested normal embryo resulted in the same delivery rate as transferring multiple untested embryos. When genetic testing is performed, it is now standard of care to transfer just a single embryo at a time — gone are the days of risky triplet and high-order multiples after IVF. Actual babies, not embryos, are being spared from dying from the complications of genetic diseases and severe prematurity thanks to the increased use of single-embryo transfer afforded by preimplantation genetic testing.

The information is here.

Friday, November 10, 2017

Genetic testing of embryos creates an ethical morass

 Andrew Joseph
STAT news
Originally published October 23, 2017

Here is an excerpt:

The issue also pokes at a broader puzzle ethicists and experts are trying to reckon with as genetic testing moves out of the lab and further into the hands of consumers. People have access to more information about their own genes — or, in this case, about the genes of their potential offspring — than ever before. But having that information doesn’t necessarily mean it can be used to inform real-life decisions.

A test can tell prospective parents that their embryo has an abnormal number of chromosomes in its cells, for example, but it cannot tell them what kind of developmental delays their child might have, or whether transferring that embryo into a womb will lead to a pregnancy at all. Families and physicians are gazing into five-day-old cells like crystal balls, seeking enlightenment about what might happen over a lifetime. Plus, the tests can be wrong.

“This is a problem that the rapidly developing field of genetics is facing every day and it’s no different with embryos than it is when someone is searching Ancestry.com,” said Judith Daar, a bioethicist and clinical professor at University of California, Irvine, School of Medicine. “We’ve learned a lot, and the technology is marvelous and can be predictive and accurate, but we’re probably at a very nascent stage of understanding the impact of what the genetic findings are on health.”

Preimplantation genetic testing, or PGT, emerged in the 1990s as a way to study the DNA of embryos before they’re transferred to a womb, and the technology has grown more advanced with time. Federal data show it has been used in about 5 percent of IVF procedures going back several years, but many experts pin the figure as high as 20 or 30 percent.

The article is here.

Friday, March 10, 2017

Why genetic testing for genes for criminality is morally required

Julian Savulescu
Princeton Journal of Bioethics [2001, 4:79-97]

Abstract

This paper argues for a Principle of Procreative Beneficence, that couples (or single reproducers) should select the child, of the possible children they could have, who is expected to have the best life, or at least as good a life as the others. If there are a number of different variants of a given gene, then we have most reason to select embryos which have those variants which are associated with the best lives, that is, those lives with the highest levels of well-being. It is possible that in the future some genes are identified which make it more likely that a person will engage in criminal behaviour. If that criminal behaviour makes that person's life go worse (as it plausibly would), and if those genes do not have other good effects in terms of promoting well-being, then we have a strong reason to encourage couples to test their embryos with the most favourable genetic profile. This paper was derived from a talk given as a part of the Decamp Seminar Series at the Princeton University Center for Human Values, October 4, 2000.

The article is here.

Friday, September 16, 2016

Direct to consumer genetic testing and the libertarian right to test

Michele Loi
J Med Ethics 2016;42:574-577

Abstract

I sketch a libertarian argument for the right to test in the context of ‘direct to consumer’ (DTC) genetic testing. A libertarian right to genetic tests, as defined here, relies on the idea of a moral right to self-ownership. I show how a libertarian right to test can be inferred from this general libertarian premise, at least as a prima facie right, shifting the burden of justification on regulators. I distinguish this distinctively libertarian position from some arguments based on considerations of utility or autonomy, which are sometimes labelled ‘libertarian’ because they oppose a tight regulation of the direct to consumer genetic testing sector. If one takes the libertarian right to test as a starting point, the whole discussion concerning autonomy and personal utility may be sidestepped. Finally, I briefly consider some considerations that justify the regulation of the DTC genetic testing market, compatible with the recognition of a prima facie right to test.

The article is here.

Friday, July 1, 2016

Predictive genetic testing for neurodegenerative conditions: how should conflicting interests within families be managed?

Zornitza Stark, Jane Wallace, Lynn Gillam, Matthew Burgess, Martin B Delatycki
J Med Ethics doi:10.1136/medethics-2016-103400

Abstract

Predictive genetic testing for a neurodegenerative condition in one individual in a family may have implications for other family members, in that it can reveal their genetic status. Herein a complex clinical case is explored where the testing wish of one family member was in direct conflict to that of another. The son of a person at 50% risk of an autosomal dominant neurodegenerative condition requested testing to reveal his genetic status. The main reason for the request was if he had the familial mutation, he and his partner planned to utilise preimplantation genetic diagnosis to prevent his offspring having the condition. His at-risk parent was clear that if they found out they had the mutation, they would commit suicide. We assess the potential benefits and harms from acceding to or denying such a request and present an approach to balancing competing rights of individuals within families at risk of late-onset genetic conditions, where family members have irreconcilable differences with respect to predictive testing. We argue that while it may not be possible to completely avoid harm in these situations, it is important to consider the magnitude of risks, and make every effort to limit the potential for adverse outcomes.

The article is here.

Thursday, February 11, 2016

‘Is this knowledge mine and nobody else's? I don't feel that.’

Patient views about consent, confidentiality and information-sharing in genetic medicine

Sandi Dheensa, Angela Fenwick, and Anneke Lucassen
J Med Ethics doi:10.1136/medethics-2015-102781

Abstract

In genetic medicine, a patient's diagnosis can mean their family members are also at risk, raising a question about how consent and confidentiality should function in clinical genetics. This question is particularly pressing when it is unclear whether a patient has shared information. Conventionally, healthcare professionals view confidentiality at an individual level and ‘disclosure without consent’ as the exception, not the rule. The relational joint account model, by contrast, conceptualises genetic information as confidential at the familial level and encourages professionals to take disclosure as the default position. In this study, we interviewed 33 patients about consent and confidentiality and analysed data thematically. Our first theme showed that although participants thought of certain aspects of genetic conditions—for example, the way they affect day-to-day health—as somewhat personal, they perceived genetic information—for example, the mutation in isolation—as familial. Most thought these elements were separable and thought family members had a right to know the latter, identifying a broad range of harms that would justify disclosure. Our second theme illustrated that participants nonetheless had some concerns about what, if any, implications there would be of professionals treating such information as familial and they emphasised the importance of being informed about the way their information would be shared. Based on these results, we recommend that professionals take disclosure as the default position, but make clear that they will treat genetic information as familial during initial consultations and address any concerns therein.

The article is here.

Wednesday, October 15, 2014

Finding Risks, Not Answers, in Gene Tests

By Denise Grady and Andrew Pollack
The New York Times
Originally published September 22, 2014

Jennifer was 39 and perfectly healthy, but her grandmother had died young from breast cancer, so she decided to be tested for mutations in two genes known to increase risk for the disease.

When a genetic counselor offered additional tests for 20 other genes linked to various cancers, Jennifer said yes. The more information, the better, she thought.

The results, she said, were “surreal.” She did not have mutations in the breast cancer genes, but did have one linked to a high risk of stomach cancer. In people with a family history of the disease, that mutation is considered so risky that patients who are not even sick are often advised to have their stomachs removed. But no one knows what the finding might mean in someone like Jennifer, whose family has not had the disease.

The entire article is here.

Sunday, July 20, 2014

In Depth: Should We Design Our Babies?

The Aspen Institute
Streamed live on July 2, 2014

The discussion of "designer babies" often revolves around gender or hair color, but the medical debate is far more complicated. Should we screen embryos for disease or other genetic modifications? These considerations raise ethical questions and call into question the validity of surrounding research. The lack of regulation and oversight make this particular biotechnology frightening to some, while the potential for disease eradicating techniques excites others. But how far is too far? What are the major scientific and ethical hurdles to assuage the skeptics? Underwritten by Booz Allen Hamilton


Tuesday, May 27, 2014

Are we ready for a prenatal screening test for autism?

A blood test for diagnosing autism is becoming a realistic possibility, but the ethical implications are profound

By David Cox

Originally published May 1, 2014

Here are two excerpts:

One approach is to compare blood samples from autism patients and healthy individuals and search for what is known as a protein fingerprint – a set of protein levels that is consistently and markedly different in people with autism. So far this has been done relatively successfully in Asperger's syndrome, forming the basis of a blood test that can diagnose the disorder with 80% accuracy, and there are hopes this feat can soon be replicated for autism disorder.

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"The whole ethos behind medicine is to do no harm and if the test is only 80% accurate, it means a proportion of people will be told they have the condition when they don't, so you've raised anxieties unnecessarily. Equally if the test is missing people, then they'll be going away thinking I'm fine when they could be getting support."

Whether measuring protein levels alone should ever be sufficient for a diagnosis is also open to question. Like all neuropsychiatric conditions, autism has varying degrees of severity, meaning some patients require constant care while those with "high-functioning autism" are capable of living independently, adapting to society around them and holding down a job. Right now, such a test would merely pool everyone with autism into the same category. Should we be intervening at all in some cases?

The entire story is here.

Wednesday, February 19, 2014

Ethics Questions Arise as Genetic Testing of Embryos Increases

By GINA Kolata
The New York Times
Originally posted February 3, 2014

Here is an excerpt:

Genetic testing of embryos has been around for more than a decade, but its use has soared in recent years as methods have improved and more disease-causing genes have been discovered. The in vitro fertilization and testing are expensive — typically about $20,000 — but they make it possible for couples to ensure that their children will not inherit a faulty gene and to avoid the difficult choice of whether to abort a pregnancy if testing of a fetus detects a genetic problem.

But the procedure also raises unsettling ethical questions that trouble advocates for the disabled and have left some doctors struggling with what they should tell their patients.

The entire story is here.

Friday, January 10, 2014

Screening Newborns For Disease Can Leave Families In Limbo

By Nell Greenfieldboyce
NPR Health News
Originally posted December 23, 2013

For Matthew and Brianne Wojtesta, it all started about a week after the birth of their daughter Vera. Matthew was picking up his son from kindergarten when he got a phone call.

It was their pediatrician, with some shocking news. Vera had been flagged by New York's newborn screening program as possibly having a potentially deadly disease, and would need to go see a neurologist the next day.

Like every state, New York requires that newborns get a small heel prick so that a few drops of blood can be sent to a lab for testing. The idea is to catch health problems that could cause death or disability without early intervention.

But in recent years, patient advocacy groups have been pushing states to adopt mandatory newborn screening for more and more diseases, including ones that have no easy diagnosis or treatment.

One of those is Krabbe disease, a rare and devastating neurological disorder.

In 2006, New York became the first state to screen for Krabbe, and until recently it was the only state to do so. Screening for this disease is expanding, even though some experts say the treatment available doesn't seem to help affected children as much as was initially hoped — and testing can put some families in a kind of fearful limbo.

The entire story is here.

Tuesday, December 24, 2013

Dan Ariely on 23andMe and the Burden of Knowledge

By Scott Berinato
Harvard Business Review Blog
Originally published December 9, 2013

News broke Friday that 23andMe, the provider of genetic testing services built around a $99 kit you can use at home, would cease providing health information to consumers while the product underwent a Food and Drug Administration approval process, because the FDA considers the test a medical device that requires regulatory review. While the FDA reviews the product, 23andMe will continue to provide customers ancestry data and raw data.

Coincidentally, right when the news was posted, I was speaking with celebrated behavioral economist Dan Ariely about 23andMe. Ariely saw an ad for the kit and his curiosity prompted him to take the test. When he got the results, he knew he wanted to direct a researcher’s lens on it, because “this was standard, classic, even an exaggerated case of information overload. I wanted to analyze it from the point of view of what we can do with this information, and what should we do. I also had the thought, maybe we could use it for our research on decision making.” So Ariely got kits for all of the researchers on his staff. He spoke to me about the results of that experiment, and how he hopes products like 23andMe could improve based on behavioral science.

The entire blog post is here.

Saturday, December 21, 2013

What to Consider Before Undergoing a DNA Test

By Anne Tergesen
The Wall Street Journal
Originally published December 8, 2013

As the price of sequencing a person's entire DNA has tumbled from $1 billion a decade ago to a few thousand dollars today, many adults—and their physicians—are turning to genetic tests to better understand and manage their health.

The process, though, can be problematic. Some people who test, like the actress Angelina Jolie, learn information that can have dramatic consequences for their health and insurability—and that of their relatives.

And the testing business itself is still young and experiencing growing pains. Last month the Food and Drug Administration ordered genetic-testing firm 23andMe Inc. to stop marketing its $99 mail-order kit. The agency warned that false results could prompt consumers to undergo unnecessary health procedures. The company halted all ads for the kit and said it would work with regulators to address their concerns.

The entire article is here.