Category Archives: current science

Must Read Interview: Psychiatric Genetic Counseling. ((Anna & Sarah))

Interview with Anna: Psychiatric Genetic Counseling 

Sarah: How did you become interested in psychiatric genetic counseling?

Anna: I have a BA and an MA in psychology, and was always fascinated by psychopathology. After I completed my MA in Vancouver, British Columbia and started looking into genetic counseling, I came across Dr. Jehannine Austin’s research group. In her research, she uses a clinical genetics approach to understanding mental illness. I found that her research allowed me to incorporate my interest in psychology with my interest in genetics.

S: How were you able to obtain a psychiatric genetics rotation last summer?

A: Dr. Austin had launched the psychiatric genetic counseling clinic a few months before I moved to New York to complete my genetic counseling degree, so unfortunately I didn’t get the chance to observe any sessions. They had taken 2 summer students just as I was leaving, and I was told to keep my eyes open for the following summer. When I found out about the position, I jumped at the chance to work with the team again and to learn more about the clinic.

S: What was one of the biggest differences you noticed when counseling in a psychiatric genetics clinic?

A: For one, they don’t offer genetic testing. Second, the session is extremely psychosocial driven, which makes it longer. I also saw the amount of guilt and shame people experienced when discussing their mental illness, or the mental illness of a loved one. There is so much stigma people face so it’s not something many people talk about. Maybe some think that if no genetic test is offered than what point is having a clinic like this? But I got to see some dramatic changes in peoples’ beliefs about what causes mental illness and how they can protect themselves. I also got to witness a ton of weight lifted off people’s shoulders as they came to terms with the fact that they did not cause their child’s mental illness. That is huge!

S: What are some the mostly “highly genetic” psychiatric conditions?

A: That’s a difficult question to answer. I think with mental illness in particular it’s very multifactorial. However, I don’t think people realize that we all have the capacity to develop a mental illness. This is because we all have some genetic predisposition that we are born with- some more than others- and it’s the different experiences we go through that can determine whether one person goes on to develop a mental illness or not. Someone with a strong family history of mental illness may have a greater vulnerability than someone with less of a family history. But genetics is not destiny and there are things we can do to protect ourselves from getting sick. We do have control and I think that’s an important message for people.

If we see someone with developmental delay and psychosis genetic testing is offered for 22q11 deletion syndrome (DiGeorge), because 22q11 is the greatest risk factor for developing schizophrenia.

S: What other types of health care providers are vital for a Psychiatric Genetics Clinic?

A: Many of the patients we saw were referred by their psychiatrist or psychologist. But the nature of the clinic accepts self-referrals as well, so any health care provider could refer their patients. But it’s really important to have other medical professionals on board because there is a genetics component to mental illness and this clinic really helps people understand that involvement.

S: What did you enjoy most about a multidisciplinary clinic environment?

A: I think working in a multidisciplinary environment is great because you can learn so much from your colleagues. It also allows me to appreciate what patients go through when they see all these specialists; I can be more compassionate because it can be frustrating having to coordinate and attend a bunch of appointments.

S: What is it like to counsel someone with a psychiatric condition? Are there some unique strategies you use/saw utilized in clinic?

A: Honestly, it didn’t feel any different than counseling someone without one. The biggest thing for me though was trying to break down their misconceptions about mental illness and all the internalized guilt and shame. I also very much appreciated that people were willing to discuss their mental health with me- a complete stranger. It’s such a sensitive topic but when you give someone a safe atmosphere to open up, it’s amazing how liberating it is for him or her, and for yourself.

I found it really beneficial for patients when we used diagrams. The flipbook we used illustrates “mental illness jars,” which help explain everyone’s genetic predisposition.  ((S: This “mental illness jar” illustration can be found in Dr. Austin’s book, which is noted below… at the top of page 91!))  It helped people visualize what having a genetic vulnerability means and how environment contributes to one’s risk. Also, we allowed the patients to explain their story to us. Why did they think they got sick? What do they think caused their mental illness? And what are some things they do to protect themselves from having a relapse or getting sick in the first place? The sessions were very patient driven, which was nice.

S: What are some “take away points” people should keep in mind if they want to go into counseling patients who have a personal or family history of a psychiatric condition. Or some pros and cons regarding the field, in your opinion?

A: I think it’s really important for counselors to know that it isn’t difficult to counsel people with mental illness. And it is very important not to brush over or skip the psychological assessment on patient intakes. We can’t be afraid to go there with our patients. Our brain is an organ like any other organ in our body. And when our brain doesn’t work as it should, we take medication or go for therapy. That shouldn’t be any different than taking insulin for diabetes or heart medication etc.

I think a big pro of discussing mental health with patients is creating that dialogue about mental illness and creating a greater awareness. Hopefully that will reduce the stigma, shame and guilt people experience. Unfortunately, I think that it has been somewhat of an uphill battle because the genetics of mental illness is so complex. There is no quick fix, easy answer or blood test we can offer, and that can be hard for some people.

I think that it is important for health care professionals to understand that we all have our patients’ best interests in mind and that takes a multidisciplinary approach. And sometimes it’s not about what test we can administer or what drug we can prescribe. Sometimes all it takes is just someone to listen, and as genetic counselors, I think that’s one of the things we do best.

Those who are interested in learning more about counseling people with mental illness can read Dr. Austin’s book: How To Talk With Families About Genetics And Psychiatric Illness.

((Huge thanks to Anna for the interview, very enlightening!  Hope you all enjoyed this post and her answers as much as I did! –Sarah))

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In the News: BRCA Genes Cannot be Patented

Hot off the heels of Angelina Jolie’s mastectomy decision – due to being BRCA mutation positive – a June 13, 2013 decision by the Supreme Court now rules that human genes cannot be patented.  The debate regarding DNA ownership centers heavily on Myriad Genetics, which was awarded patents for BRCA1 and BRCA2 mutations (actual patents on DNA sequences) in the 1990s.  The gates are now open for others to offer BRCA1/2 testing for reduced prices, an opportunity companies are already capitalizing on within a mere 24 hours of the ruling.

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Genetic Counseling Thesis: An Interview with Olivia ((Interviewed by Jade))

Tweeted... document from X-Men: Days of Future Past (Copyright: Twitter/@bryansinger)

Tweeted… document from X-Men: Days of Future Past (Copyright: Twitter/@bryansinger)

A whole lotta blood, sweat, and tears goes into graduate school, but, to a certain extent, the workload is relatable.  We have been accustomed to exams for ages now.  We know how to work a library. We are not afraid of extracurricular opportunities, and even PubMed searches are becoming like an old friend.
However, at least for those of us earning our first master’s degree, Thesis is uncharted territory. It is not required by all GC programs, but it is by most, and finished projects range from 50 to well over 100 pages of scientific goodstuff. I decided to interview Olivia to provide some insight into the process, as well as a better understanding of the immense amount of work and re-work that the project demands.
1. Olivia, summarize your thesis in 3 sentences or less.
Fertility technologies such as sperm, oocyte, or embryo cryopreservation have recently been applied to assist cancer patients at risk of infertility due to cancer treatment or for gene positive individuals for whom removal of reproductive organs is indicated (think: BRCA carriers).  Because genetic counselors often see patients who are of reproductive age who may be candidates for these procedures, termed fertility preservation, I surveyed counselors for their interest and education needs regarding this topic. Overall, counselors were open to incorporating this subject into their sessions and wanted to learn more so they can be prepared to help guide an interested patient.
2. Why did this topic interest you?
 I really am intrigued by the application of new technology in the clinical setting. I used to work in a translational lab where the goal was to carry bench science findings into  eventual development as drug therapies for cancer patients and the curiosity has continued!
3. Were your results significant/What was learned?
Oncofertility is entering the realm of treatment and management of cancer care, the oncologist’s zone usually, so I wasn’t sure how open counselors would be to incorporating this discussion into their sessions. However, they were incredibly curious and eager to learn more, especially regarding subtopics that would help them identify who was most at risk and where to find resources. Developing an educational tool for any counselor to access when needed would be the next step in the project but it would also be interesting to hear the patient’s perspectives as well.
4. What part of thesis-writing made you want to pull your hair out?
I think thesis is difficult because it requires that you are aware of not only details (citations, making coherent sentences) but that you don’t lose sight of the big picture (goal of the thesis/hypothesis, take home message). It can be tiring zooming in and out again. Plus, it’s like a marathon. I don’t think I’ve ever worked on a project that long, ever.
5. What part of thesis-writing made you think maybe it was worth pulling your hair out?
 It felt really great to hear the responses to my survey and to my final paper. I’m a newbie to the field but I really am eager to show that I can contribute in some small way. It was a great introduction to research and to professional issues.  I look forward to continuing this project and doing a pilot of an educational tool in the (near) future.
6.  Impart some words of wisdom for future thesis writers.
 Be dedicated and try not to be discouraged. Set a writing schedule and a no-writing schedule (aka time to recharge) and STICK TO IT. Also, get someone who knows stats programs really well and become best friends.
Get more info here and here and, hey, here, here, here.  {These links provide examples of past student works from different programs.}
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15-year-old Invents New Method of Diagnosing Cancer #PancreaticCancerResearch

Instead of taking ‘duck-face’ pictures of yourself online…or posting food on Instagram…you could be changing the world.

The following video is an immensely inspiring story about a 15-year-old’s quest in cancer research.  This is especially pertinent as he is investigating early detection of pancreatic cancer — a notoriously sneaky cancer that is often found too late due to few or non-overt symptoms.

Pancreatic cancer is also linked to BRCA1/2 gene mutations associated with Hereditary Breast and Ovarian Cancer (HBOC) syndrome.  While the HBOC risk for pancreatic cancer is increased above that of the general population, it is often disheartening to admit to patients that we are not that great at detection with our current science.

Some will also remember that Carnegie Mellon professor, Randy Pausch, lost his battle to pancreatic cancer.  He is the speaker/author of the inspirational Last Lecture.

 

COMING UP NEXT MONTH: A guest post from a first-year classmate of mine regarding tips & tricks for interviewing with genetic counseling programs.  Many of our “m&g fans” have requested that we discuss How to Get In to Programs ….well, we hear you!

Happy New Year from M&G! How to Live Forever in 2013 and Other Medical Break-Throughs.

This is another info-graphic that we certainly cannot take credit for, but it seems like a fun way to ring in the New Year!  We wrote earlier about Living Forever, which is always a fun science-fiction topic that tip-toes towards real life application.

Living Forever.

Living Forever.

Also from the World Wide Web, we bring you “Medical Innovations in the Next 10-20 Years.”  They discuss the developments in tissue regeneration and bionics (replacement eyeballs with 20/20 vision!).  To really glimpse into the astounding forefront of regenerative medicine, there is this Ted Talk that delineates where we’re headed.  Amazingly, we’re partly already there:

And what would a post about “The Future of (Genetics) Medicine” be without mention of human cloning.  Rightfully so, the controversy coats the application, however, they predict it could become reality by 2020.  Here, Discovery Channel talks Human Cloning.  I admit I have yet to watch the entire video, but the comments provide a glimpse of the emotionally-charged issue (again, rightfully so):

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YouTube, Pinterest, and A Genetics Hodge Podge ((By Jade))

And…only one more semester to go!  (Anyone looking to hire two amazing genetic counselors, right out of the blocks?)

This post is simply a mash-up of genetics-related materials that I have been stockpiling.  And now that exams are over, and I have successfully driven 8 hours home, it is time to give WordPress a little attention:

To begin, this is a YouTube channel that I subscribed to in order to study for finals (it’s the new, mature way to study).  I believe this provides a clear description regarding epigenetics:

Next, here is a great new blog that details Genetic Counselling (the two “L” counselling) in South Africa.  I love their message of promotion.   They also tweet @GCNewsSA.

Thesis Update: I have proudly collaborated with the Hispanic Health Initiative at MUSC (Charleston).  I am so grateful to have their support and to collect some data from the participants.  Nothing has been analyzed thus far, but incoming data is a great boost during the long process that is thesis.

And finally, leave it to Pinterest to provide a clear explanation for Whole Exome Sequencing.

Step Aside, Baby Mozart… ((By Jade))

photo credit: “Got Milk?” from David and Jennilyn blog; http://davidandjennilyn.com/2009/02/11/got-milk/

While we try to stay factual in grad school, every once in a while someone starts a sentence with, “Well, I once heard somewhere that….”

So someone once heard somewhere that intelligence is linked to breast milk.  So I looked it up.  (Which gives some insight as to how I spend my Friday nights).  The New York Times published this article in 2007, claiming “Mental Abilities: Gene Found to Play Role in Benefits of Breast Milk.”  (Scientific research here).

The Nature part relies on the baby having acquired a common gene variant in FADS2, a metabolism gene which is better able to process fatty-acids (important in optimum brain functioning).  The Nurture, of course, relies on the baby having been breast fed.  Go figure.

“The big message from this,” Dr. Caspi said, “is that it’s not nature versus nurture that’s most important, but how nature works through nurture.”

 

In real life:  I’m finishing up my May Semester, which began right after the Spring Semester ended.  I have a couple more days of classes, a thesis proposal to submit to the IRB, and a parking decal to pick up before I begin my internship in Orlando.  Not to be outdone by Olivia, who is about to jet-set off to New Zealand  for her summer internship!

In Lieu of Studying: Online Surfing and Body Surfing with Autism ((By Jade))

photo cred: Patagonia's "The Cleanest Line" blog, courtesy of Greg and Donna Edwards

      With two 10-page papers and two final exams on deck, it was only natural that I spent way too much time on Facebook this weekend with a couple of bouts of online shopping.  But, I also dug up some good genetics gems on the internet…and then decided to make a blog post about it in order to continue not studying.

1. After watching the documentary — Come Hell or High Water — Greg and Donna Edwards’ son, Kyan, who has autism, seemed enthused by the idea of surfing.  His parents decided to bring Kyan to the beach, an environment that previously created an uncomfortable ‘sensory overload.’  Inspired by the beauty of the waves in the documentary, this time Kyan “ran out into the water!”  His parents gushed:

Our son has discovered the ocean. He now feels at home in the water.

2. My boyfriend recently forwarded me the trailer for a WWII documentary entitled Menschen.  It’s currently raising funds for production.  A young man with Down syndrome stars as one of the main characters.

“MENSCHEN” is the German word for “human beings”. The film challenges prejudice behind stereotypes like “enemy”, “disabled”, or even “hero”.

3. And, finally, this deserves some good-hot, ethical debate (or maybe just a finger-wag):  Companies are now marketing genetic testing to measure sports aptitude.  I first heard about this at the ACMG conference a couple weeks ago, which was followed by ethical conversation and some uproar from the crowd.  The implications are numerous, but I wanted to poke around online for myself to see what exactly was being offered.  Atlas First seems to be the most searchable and most cited in the media.  I won’t give my full opinion on all this jazz (I’ve got finals to take care of!), but I will re-write one of the comments from an audience member at the ACMG conference:

I’m a terrible basketball player.  I’m awful.  But I love it.  And my life would not be nearly as fulfilling if I had taken a genetic test that predicted how awful I would be and was then told I better steer clear of basketball.

Final note: Congrats to all the new genetic counseling students who receive offers to programs on Monday 🙂

Lady Lumps and Nutrition for Breast Cancer ((By Jade))

We do a lot of outside learning during the semester.  Which is a “good” thing, they tell us, since we’re rounding out our education and getting the full experience, so we become even better providers.  This also means that we rarely have a set schedule and often hustle back and forth between classes, volunteer activities, tumor boards, conferences, guest lecturers, and support groups.

But it’s a “good” thing, especially when we’re exposed to some amazing speakers and hear about experiences and scientific break-throughs that weave into our classroom learning.

Specifically, 2 classmates and I recently had the privilege to attend a breast cancer support group that featured a nutritionist.  She spoke on healing breast cancer through healthful food choices and re-alignment of the endocrine system.  She reinforced the immunizing properties of food and touched on themes such as: healthy weight, controlling insulin, maintaining an alkaline pH, healthy intestinal flora, reduced exposure to pesticides, physical activity, etc.

The women in the audience were truly engaged.  Many had undergone rounds of chemotherapy and radiation and surgery.  My impression was that nutrition was an aspect within their control, an action they could take to help the healing process and feel in control of their bodies.  The speaker did not describe a panacea, but rather a positive route to connect with personal healthcare.

As an afternote, I sometimes probe the internet for interesting correlations between health and disease.  When I’m being a good student, I explore literature related to cancer and cultural trends…since that’s the direction in which I intend to take my thesis.  When I’m being a poor student, I explore “literature” (read: blogs) about interesting recipes and ways to spice up my coffee consumption.

Sometimes my worlds collide.

I recently stumbled upon a recipe for “Bulletproof Coffee” – it involves adding butter to your coffee.

(I am absolutely going to test this out.)

But the coffee article also incorporated a link to a new study, claiming coffee consumption reduces the risk of breast cancer in women.  Always be skeptical of the internet – except when they tell you to put butter in your coffee, there is no way that that could be a bad idea. I used my scientific sleuth abilities to look over the article, though, and all looks good from my view.  In fact, the results were indeed significant, the article is recent (2011), and the findings interestingly apply to ER-negative women.  Very cool.

Sixty Percent of the Time, It Works Every Time ((By Jade))

By ROGER COHEN Published: July 15, 2009, taken from http://www.nytimes.com/2009/07/16/opinion/16iht-edcohen.html

I stumbled across this fun article the other day.  The title caught my attention since we had to write about genetics and longevity on a final exam, which was an interesting topic, but without any “real” answer.

And this article embodies that – interesting and fun, but…umm…it doesn’t seem like they’ve got it all figured out.  In fact, I had to laugh at all the playing with numbers: if you analyze 150 gene variants – taken as a whole – you can predict “centenarian-ness” with 77% accuracy (the predictive power was eventually lessened to 60%).  Which is like saying that 77% of the time, or maybe just 60% of the time, you can live to 100 years 100% of the time, if you have the right 150 genes, kind of.

Despite how my tone comes across, I’m not trying to sound cynical.  The people who researched this are much smarter than I am and devoted a heck of a lot of time, money, and passion into this research (I would imagine).  It’s not the results that make me laugh, it’s that elusiveness of figuring out multifactorial traits…no matter how interesting they are.

But if you were really looking to live to 100 – and also figure out the meaning of life – I highly recommend this NY Times piece.  You might just want to be the monkey that lives fast and dies young….and leaves behind a good-looking corpse (OK, sorry, now I’m just typing out Jay-Z lyrics…which is possibly another source for the meaning of life…)

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