Direct-to-Consumer is Direct-to-Chaos for Rare Disease Families
The DNA Exchange
by dnaexchangeguest
3w ago
By Devin Shuman, LCGC (she/her) As a rare disease genetic counselor – who both has a rare genetic condition and serves rare disease patient populations as a provider – I have a Rare Disease Day Public Service Announcement for you: Do not order Direct-to-Consumer testing and please actively discourage other providers and patients from ordering it themselves. We need to step up as a field and take a stance. As a genetic counselor and patient in the rare disease world, every single week I’m being asked a question about these new “direct-to-consumer” genetic testing options. It can feel like whac ..read more
Visit website
The Wonderful Messiness of Genetic Counseling
The DNA Exchange
by Robert Resta
1M ago
In his poem American Sonnet Billy Collins compares a sonnet to “furrows in a small, carefully plowed field.” Classical sonnets are tidily structured works that more or less follow a format of 14 lines, often in rhyme, the last two of which offer a resolution to the problem or question set forth in the earlier lines.* The strictures and structure of a sonnet and the image of a plowed and furrowed field makes me think of how genetic counselors try to neatly organize genetic counseling sessions. The templated counseling notes we produce afterwards – some version of Patient Identification, Medical ..read more
Visit website
The Naïve Assumption Underlyng Polygenic Screening For Common Conditions
The DNA Exchange
by Robert Resta
2M ago
Polygenic risk scores* are all the rage these days. Thousands of articles and research studies have attempted to link polygenic scores to just about every medical condition, behavior, and trait you can think of, and a few I had not thought of such as reproductive behavior. They have contributed to improving our understanding of human genetic architecture, hold potential for guiding treatment decisions, and have started to open the black box of gene-environment interplay, to name a few applications. Polygenic scores have laid bare the racial/ethnic bias in genetic data bases that have prov ..read more
Visit website
Dogs, Ducks, and Disney: Eugenic Themes From Toon World
The DNA Exchange
by Robert Resta
2M ago
The collective memory of eugenics is that it was an ideology of archconservatives that thrived during the first half of the 20th century and whose demise was hastened by the horrors of Nazi Germany. We like to think that we now know better. Better science, better morals, better guiding ethical principles. Heck, we must even be better people. It may be a comforting story, but historians of science have been pointing out for decades that this collective memory is flawed. Eugenic ideologies and policies, usually under different labels and in various forms, can be found today in sci ..read more
Visit website
Guest Post: New year, new name?
The DNA Exchange
by dnaexchangeguest
3M ago
by Misha Raskin At the recent annual conference for the National Society of Genetic Counselors (NSGC) in Chicago, there was a spirited debate about whether or not to change the genetic counselor name. An alternate name was not presented, but below is a word cloud of proposed alternate names which DNA Exchange author Bob Resta shared in his recent blog post, where he decided to decline supporting a name change.  An informal poll that was circulated after the debate found that a significant percentage of genetic counselors were also wary of pursuing a name change ..read more
Visit website
Ableist Assumptions:  How GCs Need to Pave the Path to Inclusivity and Fight Against the Harm of “Good Intentions”
The DNA Exchange
by dnaexchangeguest
8M ago
by Devin Shuman This month is the 33rd anniversary of the Americans with Disabilities Act (ADA) being signed into law and so has become Disability Pride Month. Most people started today unaware of either of these events and have likely never seen the Disability Pride Flag before. You won’t likely see companies changing their logo on social media to celebrate their disabled employees and customers. Disability awareness campaigns and sharing “inspirational” disability stories may be a common part of public discourse, but Disability Pride and the history of Disability culture are less commonly di ..read more
Visit website
Spinning Disability Into Gold: SMN1 testing and the monetary valuation of life.
The DNA Exchange
by dnaexchangeguest
9M ago
by Dan Meadows Beatrice Adler-Bolton and Artie Vierkant’s debut book Health Communism makes a remarkable case for reimagining the global healthcare landscape. For the genetic counseling field, their case offers an urgently needed approach to patient advocacy. In 1995, Dr. Judith Melki isolated SMN1, a gene implicated in the rare neurodegenerative condition spinal muscular atrophy (SMA). Dr. Melki also discovered SMN2, an unexpressed near-identical copy of the SMN1 gene that was a promising target for novel therapeutics. Spinraza, the first developed from this discovery, was the product of ..read more
Visit website
Dangerous “Allyship”: Capitalizing on others’ oppression
The DNA Exchange
by dnaexchangeguest
10M ago
by Kimberly Zayhowski, Helen Kim, and Liann Jimmons             As we are reminded by the National Society of Genetic Counselors’ Professional Status Survey each year, the genetic counseling field remains notoriously homogenous. With the Black Lives Matter and Stop Asian Hate movements and a growing consciousness of social justice matters, many with privileged identities are coming to appreciate the extent of oppression such as racism, sexism, ableism, transphobia and homophobia in our society. A focus on diversity, equity ..read more
Visit website
Guest Post: Polygenic Scores: A Demand To Laboratories For Greater Transparency, Validation, and Inclusivity
The DNA Exchange
by dnaexchangeguest
10M ago
Polygenic scores (PGS), sometimes referred to as polygenic risk scores (PRS), are a developing risk estimate tool used to determine personalized risk for complex conditions that are influenced by both genetics and environment, such as breast cancer. Historically, utilization of PGS in genetic testing has been discriminatory and inequitable across various ancestries, which likely exacerbates racial inequities. While genetic ancestry is biologically based, it can correlate with race (a social construct); therefore, inequities in ancestry-based data add to racial health care disparities. Until 20 ..read more
Visit website
Eulogy for a clinic
The DNA Exchange
by laurahercher
10M ago
by Jehannine Austin My professional life up till this point has been centered around a mission to bring genetic counseling to people who – like me – live with psychiatric conditions, and their families. This has been my mission for >20 years, since my family started asking me about whether psychiatric conditions were genetic and what this meant for us while I was doing my PhD on this topic. Realizing that it wasn’t just my family that had these questions and that no-one was really addressing them is what drove me to train as a genetic counselor. Once I completed my genetic counseling traini ..read more
Visit website

Follow The DNA Exchange on FeedSpot

Continue with Google
Continue with Apple
OR