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Genetic testing cannot reveal the gender of your baby − two genetic counselors explain the complexities of sex and gender

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theconversation.com – Maggie Ruderman, Assistant Professor of Medicine, Boston University – 2024-06-25 07:34:24
Gender and sex are more complicated than X and Y chromosomes.
I Like That One/Digital Vision via Getty Images

Maggie Ruderman, Boston University and Kimberly Zayhowski, Boston University

Gender reveal parties are best known as celebrations involving pink and blue, cake and confetti, and the occasional wildfire. Along with being social media hits, gender reveals are a testament to how society is squeezing children into one of two predetermined gender boxes before they are even born.

These parties are often based on the 18- to 20-week ultrasound, otherwise known as the anatomy scan. This is the point during fetal development when the genitals are typically observed and the word “boy” or “girl” can be secretly written on a piece of paper and placed into an envelope for the planned reveal.

Now there is a new player in the gender reveal game: genetic screening.

Advancements in genetic research have led to the development of a simple blood test called cell-free DNA prenatal screening that screens for whether a baby has extra or missing pieces of genetic information – chromosomes – as early as 10 weeks into pregnancy. Included in this test are the sex chromosomes, otherwise known as X and Y, that play a role in the development and function of the body.

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Illustration of human karyotype
Prenatal screening tests look for chromosomal abnormalities.
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This blood test is more informally called noninvasive prenatal testing, or NIPT. Many people refer to it as “the gender test.” But this blood test cannot determine gender.

As genetic counselors and clinical researchers working to improve genetic services for gender-diverse and intersex people, we emphasize the significance of using precise and accurate language when discussing genetic testing. This is critical for providing affirming counseling to any patient seeking pregnancy-related genetic testing and resisting the erasure of transgender and intersex people in care.

Distinguishing sex and sex chromosomes

Sex and gender are often used interchangeably, but they represent entirely different concepts.

Typically when people think of sex, they think of the categories female or male. Most commonly, sex is assigned by health care providers at birth based on the genitals they observe on the newborn. Sex may also be assigned based on the X and Y chromosomes found on a genetic test. Commonly, people with XX chromosomes are assigned female at birth, and people with XY chromosomes are assigned male. Since cell-free DNA, or cfDNA, prenatal screening can report on sex chromosomes months before birth, babies are receiving sex assignments much sooner than previously possible.

While cfDNA prenatal screening can offer insights into what sex chromosomes an infant may have, sex determination is much more complicated than just X's and Y's.

For one, sex chromosomes don't exactly determine someone's sex. Other chromosomes, hormone receptors, neural pathways, reproductive organs and environmental factors contribute to sex determination as well, not unlike an orchestra with its ensemble of instruments. Each cello, flute, tympani and violin plays a crucial role in the performance of the final musical score. There is no single instrument that defines the entirety of the symphony.

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Expanding social and medical concepts of sex and gender beyond the binary can help patients and doctors.

Intersex people, or those with variations in sex characteristics that deviate from societal norms of binary sex, exemplify the complexities of sex. These variations can manifest in various ways beyond X and Y chromosomes, such as differences in hormone levels, genitalia or secondary sexual characteristics.

The oversimplification of sex based on societal norms has led many to believe that there are only two discrete sexes. The binary framework of sex excludes intersex people and perpetuates their erasure and mistreatment within both health care and society at large.

For instance, many intersex individuals face unnecessary surgeries, such as nonconsensual genital procedures, to conform to binary norms, violating their bodily autonomy.

Where gender comes in

While sex typically describes someone's anatomical characteristics, gender is an umbrella term that encompasses the way someone views and presents themselves to the world. Countless aspects influence how someone defines their own gender and how the world views their gender, including clothing, haircuts and voice tone. Similar to how Western cultures have historically confined sex to two buckets, it has also created two gender categories: man and woman.

Gender is not dependent on anatomical parts or chromosomes. People are not math equations, and having certain combinations of biological parts does not equal someone's gender. For example, some people may be transgender, meaning their assigned sex is not congruent with their socially or self-defined gender. Nonbinary people do not identify exclusively with either of the two genders in the binary, regardless of their assigned sex.

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Just like sex diversity, gender diversity is not rare. A 2022 Pew Research Center analysis found that approximately 5% of adults in the U.S. under the age of 30 are transgender or nonbinary.

These estimates will likely increase as societal awareness and acceptance of gender-diverse individuals increases. Anti-transgender legislation often oversimplifies gender as strictly binary, conflating it solely with sex assigned at birth.

Intersex and gender-diverse people show that sex and gender are both multidimensional. Gender is not solely determined by biology, and it is erroneous to define someone's gender by their sex, much less by their sex chromosomes.

Challenging sex and gender norms

The idea that biology plays the largest role in determining who an individual is, or bioessentialism, has governed misconceptions about sex and gender for many years. This concept is used to confine people to buckets and limit their self-determination.

For instance, societal norms dictate that women should be nurturing and gentle, while men are expected to be protective and assertive. Such rigid gender roles, often enforced through the lens of biology, serve to uphold notions of evolutionary destiny and a purported natural order.

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Categorizing your child at birth limits their ability to define who they are.
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Marketing strategies for children's toys often adhere strictly to gender roles, steering girls toward dolls and domestic play sets while steering boys toward action figures and construction sets.

Educational systems often reinforce gender norms by directing girls toward subjects such as literature and arts while steering boys toward science and mathematics. This perpetuates the notion that certain traits and interests are inherently linked to one's sex and gender, thereby reinforcing societal norms and sustaining inequality.

Upholding binary constructs of sex and gender does not allow for individuality and gender fluidity. Categorizing people from the time their chromosomes are analyzed or the moment their genitals are observed at birth restricts their autonomy and authenticity. These simple assumptions set expectations that can be harmful.

Letting children define themselves

If you're a parent offered cfDNA prenatal screening during pregnancy, remember that it is commenting only on one instrument in the orchestra of sex. It cannot examine all of the other factors that determine sex as a whole. And it most certainly cannot determine gender, which is an entirely different concert.

In recent years, Jenna Karvunidis, the mother considered the inventor of gender reveal parties, shared her regrets for starting the trend and noted that her views on sex and gender have shifted. In a 2019 Facebook post, Karvunidis wrote, “PLOT TWIST. The world's first gender reveal party baby is a girl who wears suits!” She had also gone on to say, “Celebrate the baby … Let's just have a cake.”

When the envelope is opened, the balloons are popped and the crafty cake is cut, consider how these practices perpetuate social confinements and a gendered destiny for your little bundle of joy. Perhaps opt simply for a celebration that leaves space for your child to one day define who they are.The Conversation

Maggie Ruderman, Assistant Professor of Medicine, Boston University and Kimberly Zayhowski, Assistant Professor, Boston University

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The Conversation

Service dogs can reduce the severity of PTSD for veterans – new research

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theconversation.com – Sarah Leighton, PhD Candidate in Social Psychology, University of Arizona – 2024-06-26 07:15:40
Service dogs are much more than pets.
K9s For Warriors

Sarah Leighton, University of Arizona and Kerri Rodriguez, University of Arizona

Service dogs can alleviate some symptoms of post-traumatic stress disorder for veterans, according to a study our team published in June 2024 in the medical journal JAMA Network Open.

Over the past decade, our research group has been studying whether trained service dogs can help veterans with PTSD – a mental condition that some people develop after experiencing a traumatic event.

Building off our preliminary findings, we conducted the first and largest clinical trial of its kind to assess this complementary intervention.

We recruited 156 post-9/11 veterans from the waitlist of K9s For Warriors, a nonprofit that matches trained service dogs with veterans who have PTSD. Of that total, 81 received service dogs and 75 remained on the waitlist throughout the three-month study. Most had been deployed and had served in the Army, three-quarters identified as male, and the average age was 38 years old.

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All veterans initially completed online surveys about their well-being and were interviewed about their PTSD symptoms by expert clinicians. We followed up three months after they either got a service dog or remained on the waitlist.

Those with service dogs had less severe symptoms and better quality of life. For example, they had milder depression and anxiety and better moods. They also had significantly lower odds of still meeting the diagnostic criteria for PTSD.

These results provide the most definitive evidence to date that service dogs are more than just pets. Our findings suggest that partnerships with these trained animals can yield lifesaving benefits for current and former service members.

PTSD can make it hard for veterans to flourish.

Why it matters

With more than 17 U.S. military veterans dying by suicide daily, their mental health is a pressing concern. Up to 29% of post-9/11 veterans have been diagnosed with PTSD at some point.
Some treatments for PTSD are available, such as exposure therapy and medications. But barriers to care, stigma, and high dropout rates from treatment programs limit their effectiveness; thus, there is a push to identify additional treatment options.

For example, there has been recent research on the use of the drug MDMA, combined with psychotherapy, for PTSD. However, an Food and Drug Administration advisory panel voted in June 2024 against approving the drug's use as a PTSD treatment due to concerns about safety and the potential for abuse.

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Service dogs are trained in specific tasks to help with a disability. For veterans with PTSD, a dog's role could include interrupting a panic attack or laying across veterans' laps to calm them. People with disabilities have a legal right to be accompanied by their service dogs in public, whether they're at a supermarket or a baseball game.

Our findings can inform policymakers, health clinicians and insurance companies on the value of service dogs for veterans with PTSD, potentially increasing funding for groups that train and place service dogs and shortening wait times.

What's next

We're conducting a randomized clinical trial called the Service Dog and Veteran Experiences Study, or SERVES. It's being done in collaboration with K9s For Warriors and Canine Companions, another nonprofit that trains and provides service dogs to veterans.

In this next study, we will have a randomized group of veterans receive a service dog early or remain on the waitlist as a control. We will follow those veterans for 12 months – rather than just three months – after they receive a service dog or not.

The SERVES study, in turn, will be followed by another randomized clinical trial funded by the Defense Department. It will investigate whether service dog partnerships can enhance the effectiveness of prolonged exposure therapy, an existing gold standard treatment for PTSD.The Conversation

Sarah Leighton, PhD Candidate in Social Psychology, University of Arizona and Kerri Rodriguez, Assistant Professor of Veterinary Medicine, University of Arizona

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FDA authorized the sale of menthol-flavored e-cigarettes – a health policy expert explains how the benefits may outweigh the risks

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theconversation.com – Jamie Hartmann-Boyce, Assistant Professor of Promotion and Policy, UMass Amherst, UMass Amherst – 2024-06-25 17:07:10
Prior to the FDA's authorization of the four new products, the agency had denied applications for menthol-flavored vapes.
Liudmila Chernetska/iStock via Getty Images

Jamie Hartmann-Boyce, UMass Amherst

On June 21, 2024, the U.S. Food and Drug Administration authorized the marketing of the first electronic cigarette products in flavors other than tobacco in the U.S. Of the four new authorized products, two are sealed, prefilled pods with menthol flavored nicotine liquid that can be used in certain types of e-cigarettes. The other two are disposable nicotine e-cigarettes – meaning once the prefilled menthol liquid is used, the device cannot be used again.

asked Jamie Hartmann-Boyce, a health policy expert who specializes in tobacco control and e-cigarette products, to explain the pros and cons of the FDA's authorization and what it could mean for vulnerable populations.

What does the new announcement from the FDA mean?

E-cigarettes, also known as vapes, are hand-held, battery-operated devices that heat a liquid to form a vapor that can be inhaled. This vapor can be manufactured to include flavors. Unlike traditional cigarettes, e-cigarettes do not contain tobacco leaf. E-cigarettes can – but don't always – contain nicotine.

Until June 21, the only nicotine e-cigarettes authorized for sale in the U.S. were tobacco-flavored. Some organizations, including some tobacco industry advocates, described this as a “de facto flavor ban.”

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The Centers for Disease Control and Prevention defines menthol as a chemical compound found naturally in peppermint and other similar plants.

This is the first time the FDA has authorized marketing of an e-cigarette flavor other than tobacco. “Tobacco flavor” describes a range of flavors that are designed to taste similar to traditional cigarettes.

What are the potential harms, such as risks to kids?

Tobacco companies have historically added menthol to traditional cigarettes to make them seem less harsh and more appealing. Tobacco companies have aggressively marketed menthol cigarettes to Black people. In 2022, the FDA proposed a ban on menthol cigarettes based on their appeal, including to youth, and the potential of such a ban to improve health and prevent deaths. But the proposal has stalled.

Research shows that nontobacco, e-liquid flavors are more appealing than tobacco flavors, including to young people. The FDA has previously denied applications for menthol e-cigarettes, stating that the applications “did not present sufficient scientific evidence to show that the potential benefit to adult smokers outweighs the risks of youth initiation and use.”

How are e-cigarettes regulated in the US?

In the U.S, e-cigarettes with nicotine fall under the authority of the FDA's Center for Tobacco Products. For their products to be legally marketed and sold in the U.S., e-cigarette manufacturers must apply for marketing authorization from the FDA.

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The FDA evaluates these applications based on the scientific evidence provided by the manufacturers. To be approved, the applications must demonstrate that permitting marketing of the products would be appropriate for protection of public health.

This means the FDA needs to weigh whether the potential benefits of the product – in other words, its ability to help adults quit smoking – outweigh its risks, including its appeal to youth. Though not risk-free, e-cigarettes are considered much less harmful than smoking. This means that adults who switch from smoking to vaping may benefit from improvements in their health.

The FDA's authorization of menthol-flavored e-cigarettes underscores the growing body of evidence that vaping can reduce the harms of traditional smoking. But many experts are concerned that the new products will entice more young people and nonsmokers to begin vaping and smoking.

Weren't flavored vapes already available in the US?

Even though only tobacco e-liquids were authorized for sale before this new announcement, many Americans report using flavored e-liquids, with sweet, fruit and mint and menthol flavors being the most popular. This is in part because many vaping products available in the U.S. haven't been authorized for marketing or sale. These are referred to as illicit products. In addition, some of the products currently available are still being reviewed by the FDA.

Many of the harms the public associates with vaping – such as the serious vaping-related lung injuries that were widely reported in 2019 and 2020 – have been linked to illicit products and the harmful chemicals some contain, which are not present in FDA-authorized products. Earlier in June, the Justice Department and FDA announced a federal multi-agency taskforce to curb distribution and sale of illegal e-cigarettes. Meanwhile, the U.S. is awash in sleek, colorful and highly potent vapes manufactured in China.

What are the potential health effects?

The best available research doesn't show any clear differences between menthol and tobacco flavored e-liquid in terms of direct health risks to users.

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As mentioned above, research suggests that nontobacco e-liquid flavors are more appealing than tobacco-flavored ones, at least in some groups. This might mean an increase in the risk of nonsmoking youth taking up vaping. But it might also encourage people who smoke to switch to vaping, which can pose fewer risks than smoking. Quitting smoking can also improve the health of other people, by reducing secondhand smoke exposure.

Smoking kills half of its regular users and is the leading cause of preventable death in the U.S. and worldwide. So alternatives that increase chances of successfully quitting smoking can bring substantial health benefits.

To grant authorization for the four new approved products, the FDA had to review an extensive amount of documents and research showing that the benefits of the new products outweighed their risks.The Conversation

Jamie Hartmann-Boyce, Assistant Professor of Health Promotion and Policy, UMass Amherst, UMass Amherst

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Kidneys from Black donors are more likely to be thrown away − a bioethicist explains why

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theconversation.com – Ana S. Iltis, Professor of Philosophy; Carlson Professor of University Studies; and Director, Center for Bioethics, and Society, Wake Forest University – 2024-06-25 07:35:43
Corey Mayes at his New York home on Feb. 10, 2023, after receiving a kidney transplant.
Steve Pfost/Newsday RM via Getty Images

Ana S. Iltis, Wake Forest University

As one of the leading causes of death in the U.S., kidney disease is a serious public health problem. The disease is particularly severe among Black Americans, who are three times more likely than white Americans to develop kidney failure.

While Black people constitute only 12% of the U.S. population, they account for 35% of those with kidney failure. The reason is due in part to the prevalence of diabetes and high blood pressure – the two largest contributors to kidney disease – in the Black community.

Almost 100,000 people in the U.S. are awaiting kidney transplantation. Though Black Americans are more likely to need transplants, they are also less likely to receive them.

Making matters worse, kidneys from Black donors in the U.S. are more likely to be thrown away as a result of a flawed system that erroneously considers all Black donor kidneys as more likely to stop working after a transplant than kidneys from donors of other races.

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As a scholar of bioethics, health and philosophy, I believe this flawed system raises serious ethical concerns about justice, fairness and good stewardship of a scarce resource – kidneys.

How did we get here?

The U.S. organ transplantation system rates donor kidneys using the kidney donor profile index, an algorithm that includes 10 factors, including the donor's age, height, weight and history of hypertension and diabetes.

Another factor in the algorithm is race.

Research on previous transplants shows that some kidneys donated by Black people are more likely to stop working sooner after transplantation than kidneys donated by people from other races.

This brings down the average time a transplanted kidney from a Black donor can last for a patient.

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A human kidhey is shown sliced in half to show major blood vessels.
An image of a cross section of a kidney showing the major blood vessels.
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As a result, kidneys donated by Black people are discarded at higher rates because the algorithm downgrades their quality based on the donor's race.

This means that some good kidneys may be wasted, raising several ethical and practical concerns.

Risk, race and genetics

Scientists have shown that races are social constructs that are poor indicators of human genetic diversity.

Using a donor's race assumed people who belong to the same socially constructed group share important biological characteristics despite evidence that there is more genetic variation within racial groups than between other racial groups. Such is the case for Black Americans.

It is possible that the explanation for observed differences in outcomes lies in genetics and not in race.

People who have two copies of certain forms or variants of the APOL1 gene are more likely to develop kidney disease.

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About 85% of people with those variants never develop kidney disease, but 15% do. Medical researchers do not yet understand what is behind this difference, but genetics is likely only part of the story. Environment and exposure to certain viruses are also possible explanations.

People who have two copies of the riskier forms of the APOL1 gene almost all have ancestors who came from Africa, especially from West and sub-Saharan Africa. In the U.S., such people typically are categorized as Black or African American.

Research on kidney transplants suggests that kidneys from donors with two copies of the higher-risk APOL1 variants fail at higher rates after transplantation. This could explain the data on Black donor kidney failure rate.

How might this practice change?

Health care professionals decide how limited resources are used and distributed. With that comes an ethical responsibility to steward resources fairly and wisely, which includes preventing unnecessary loss of transplantable kidneys.

Reducing the number of wasted kidneys is important for another reason.

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A black man raises his gown as a doctor uses a marker to  show which kidney is to be removed during surgery.
A doctor at Johns Hopkins Hospital marks which kidney to remove from a living Black donor.
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Many people agree to organ donations to help others. Black donors may be disturbed to learn that their kidneys are more likely to be discarded because they came from a Black person.

This practice can further decrease the trust of Black Americans in a health care system that has a long history of mistreating Black people.

Making organ transplantation more equitable could be as simple as ignoring race when evaluating donor kidneys, as some medical researchers have proposed.

But this approach would not account for the observed difference in transplantation outcomes and could result in transplanting some kidneys that are at increased risk for early failure due to a genetic issue.

And since Black kidney recipients are more likely to receive kidneys from Black donors, this approach could perpetuate transplant disparities.

Another option that would improve public health and reduce racial health disparities is to identify the factors that lead to some kidneys donated by Black people to fail at higher rates.

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One way researchers are working to identify higher risk kidneys is using the APOLLO study, which assesses the impact of key variants on donated kidneys.

In my view, using the variant instead of race likely would decrease the number of kidneys wasted while protecting recipients from kidneys that are likely to stop working sooner after transplantation.The Conversation

Ana S. Iltis, Professor of Philosophy; Carlson Professor of University Studies; and Director, Center for Bioethics, Health and Society, Wake Forest University

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