GeneTrends™ http://www.accessdna.com/blog By Jordanna Joaquina, MS, CGC Wed, 17 Mar 2010 23:01:57 +0000 http://wordpress.org/?v=2.8.4 en hourly 1 Triumph over Diabetes http://www.accessdna.com/blog/2010/03/triumph-over-diabetes/ http://www.accessdna.com/blog/2010/03/triumph-over-diabetes/#comments Wed, 17 Mar 2010 16:56:55 +0000 jordannajoaquina http://www.accessdna.com/blog/?p=252 Zippora Katz is a former soloist ballerina with the New York City Ballet, where she performed for over 15 years. Currently, she is a teacher and repetiteur for the George Balanchine Trust as well as diabetes patient advocate and spokesperson. Zippora has written a book called The Sugarless Plum about her experiences as a athlete living with diabetes and also writes a regular column for the Huffington Post. I recently got the chance to talk with Zippora about diabetes, dancing, children, genetic testing, and her passion for healthy living.

How old were you when you were diagnosed with diabetes?

I was diagnosed when I was 21, but it took me years to get the correct diagnosis. They thought I had type 2 diabetes when in fact I have type 1.

Some dancers struggle with food and/or weight issues due to the demands of the profession. How did your diagnosis affect your relationship with food and your body?

Very early on in my diagnosis, when I thought I could control my diabetes with diet alone, the diagnosis was actually helpful in getting me on track with a really healthy diet. I knew how important what I ate was, so I was very good about sticking to it. But once I found out I had insulin dependent diabetes, I was overwhelmed emotionally. How was I ever going to juggle insulin with my demanding athletic life as a New York City Ballerina? The emotional hopelessness I experienced, and anger at my body, fueled a self-sabotage that directly related to my food choices. I started sneaking foods I had previously limited. But through the years I learned how to accept the diagnosis and how to have compassion for my body, not rage at it for having a problem. The result of that being my ability to eat for health, and to feel at peace with my body and my life.

Does anyone else in your family have diabetes, type 1 or type 2?

No. There is speculation a great Aunt on my father’s side had diabetes, but I’m not sure which type.

Has having diabetes impacted your decision about having kids?

It’s hard to say. I performed for so many years, and at the same time struggled with my health so I didn’t entertain having children at that time. I just didn’t have the time or the energy, or a partner that wanted kids. Now that I’m 44, and feel healthier than ever I’m open to adopting. I’ve been open to adoption my whole life, even as a kid, before I knew I had diabetes.

There is a lot of debate about testing young children for genetic susceptibilities to diseases such as heart disease and diabetes. Proponents of testing argue that knowing this information helps them modify their children’s diet and avoid any known risk factors from a young age. Opponents argue that a healthy diet and lifestyle should be encouraged for all children regardless.  If you could have known from a young age that you had genetic markers associated with susceptibility to type 1 diabetes, do you think it would have impacted how your parents raised you?

It’s hard to say how it would have impacted the way my parents raised me. They thought they were doing things right back then. The truth is that certain studies were not out. I’ve seen studies about milk and juvenile diabetes as well as vitamin D deficiency and diabetes. But neither of those studies were out then. So we would not have known to look for them. I did drink a lot of milk, and recently I was low in Vitamin D. I think so much has changed recently that today parents have much more information than we ever had. But we did eat well and we exercised a lot! Besides my daily ballet lessons, we used to run around at recess, and we played outside after school everyday. So I’m not really sure what my parents could have done differently with the information available at that time.

With that said, if it were today, they could check blood sugar levels, vitamin D levels, and even food allergies like to wheat and gluten. When I was diagnosed 23 years ago doctors were prescribing a high carbohydrate diet. Today it is mainstream to eat lower carbs, which is good for diabetes. I think if someone knows they are susceptible, it very well may make the difference for them to make healthy life changes, because we have the right information available now!

Would it have impacted your career choice to be a dancer?

As far as my career choice, I loved dancing so much that nothing was going to stop me. There are things that could have made my chosen profession easier, had I known they were available. My struggle was in large part due to my lack of the proper education, and my isolation. I did not have a diabetes educator on hand, nor a doctor I felt comfortable communicating my problems with. And I had no role models to watch and know it was possible. All of that is different now, and one of the reasons I wrote my book.

What in your life gives you the most joy?

My loved ones, my cat, and the work I do. I love teaching dance, and I love connecting and motivating others to take care of themselves. My passion is to educate people and inspire them to make healthy choices, to live a conscious and passionate life, for their own health, and the health of the planet.

Click here for more information on Zippora.

Click here for more information on the genetics and inheritance of type 1 diabetes, type 2 diabetes, MODY, and neonatal diabetes.

]]> http://www.accessdna.com/blog/2010/03/triumph-over-diabetes/feed/ 1 March is National Colorectal Cancer Month http://www.accessdna.com/blog/2010/03/march-is-national-colorectal-cancer-month/ http://www.accessdna.com/blog/2010/03/march-is-national-colorectal-cancer-month/#comments Fri, 12 Mar 2010 22:11:49 +0000 jordannajoaquina http://www.accessdna.com/blog/?p=246 March is National Colorectal Cancer Awareness Month. As such, I thought I would take the opportunity to remind people that approximately 15%-20% of all colorectal cancer cases are believed to be hereditary, and about 3% of all cases are believed to caused by one specific hereditary cancer syndrome known as Lynch syndrome.

Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer or HNPCC)  is associated with a predisposition to cancers of the digestive tract, particularly the colon (large intestine) and rectum. People with Lynch syndrome have an increased risk to develop cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Affected women also have a high risk to develop cancers of the endometrium (lining of the uterus) and ovaries.

First degree relatives (parents, children, sisters, brothers) of  people with Lynch syndrome have a 50% chance to also have Lynch syndrome. Second and third degree relatives, such as grandparents, aunts, uncles, cousins, nieces and nephews, are also at increased risk. Once a mutation that causes Lynch syndrome has been identified in an individual, their family members have the option of undergoing genetic testing to determine if they also carry the mutation. Relatives with a Lynch syndrome mutation can lower their overall risk of developing or dying from colorectal cancer by having earlier and more frequent colonoscopies.

As a reminder, the Evaluation of Genomic Applications in Practice and Prevention (EGAPP™) Working Group recommends that all people with a new diagnosis of colorectal cancer should be offered counseling and educational materials about genetic testing for Lynch syndrome (regardless of age or family history) in order to help prevent cancer in their close relatives.

Other indications for referral to cancer genetic counseling for Lynch syndrome also include ONE or MORE of the following on the same side of the family:

  • Individuals with a past diagnosis of colorectal cancer (especially if under age 50 at diagnosis)
  • Individuals with multiple family members with colorectal and/or uterine cancer
  • Individuals with a known Lynch syndrome mutation in their family

Colorectal cancer can also occur in individuals with other hereditary cancer syndromes such as Li Fraumeni syndrome and Familial Adenomatous Polyposis (FAP).

To find a cancer genetic counselor in your area, visit the National Society of Medical Genetics website. To make an appointment for telephone-based genetic counseling due to a personal or family history of colorectal cancer, call 1-888-544-3639 or schedule an appointment online.

]]> http://www.accessdna.com/blog/2010/03/march-is-national-colorectal-cancer-month/feed/ 0 Weekly Twitter Digest for March 12, 2010 http://www.accessdna.com/blog/2010/03/weekly-twitter-digest-for-march-12-2010/ http://www.accessdna.com/blog/2010/03/weekly-twitter-digest-for-march-12-2010/#comments Fri, 12 Mar 2010 15:00:00 +0000 jordannajoaquina http://www.accessdna.com/blog/2010/03/weekly-twitter-digest-for-march-12-2010/
  • @Progeria We have information available on the genetics and inheritance of progeria here: http://bit.ly/9pFf0X. Hope it is helpful! in reply to Progeria #
  • RT @Progeria: Watch @DrOz March 8 about #Progeria with Dr. Gordon and the Halko family! Find your local listing http://bit.ly/9pFf0X #
  • March is hemophilia awareness month! For more info on genetics and inheritance of hemophilia: http://bit.ly/bz0SzD #
  • @ctfightsMS If you are interested in the genetics and inheritance of MS, we have information here: http://bit.ly/bhEXZN in reply to ctfightsMS #
  • @momscrazyworld We have info available on the genetics and inheritance of MS, here: http://bit.ly/bhEXZN. Hope it is helpful! in reply to momscrazyworld #

    • ]]>     http://www.accessdna.com/blog/2010/03/weekly-twitter-digest-for-march-12-2010/feed/ 0     Top 5 Genetics/Genomics Blogs http://www.accessdna.com/blog/2010/03/top-5-geneticsgenomics-blogs/ http://www.accessdna.com/blog/2010/03/top-5-geneticsgenomics-blogs/#comments Thu, 11 Mar 2010 17:02:10 +0000 jordannajoaquina http://www.accessdna.com/blog/?p=221 Genomics is a rapidly evolving world of scientific, ethical and logistical facts, myths and issues to be considered.

    How to keep up?  The following blogs help me follow advances in personalized medicine, genetic research, testing and counseling.

    Top 5 Blogs I Read:

    1. Genetic Future

    Author: Daniel McArthur

    Twitter: @dgmacarthur

    Daniel writes “about the genetic and evolutionary basis of human variation, and the companies trying to sell you information about your genome.”

    2. Genomics Law Report

    GLR Editor: Daniel Vorhaus

    Twitter: @genomicslawyer

    “The Genomics Law Report focuses on the legal implications of important developments in the fields of genomics and personalized medicine — including key litigation, legislative, regulatory and policymaking activities — in order to facilitate understanding of the complicated and shifting legal landscape governing genomic and personalized medicine commerce and research.”

    3. The Genetic Genealogist

    Author: Blaine Bettinger

    Twitter: @blaine_5

    “The Genetic Genealogist examines the intersection of traditional genealogical techniques and modern genetic research. The blog also explores the latest news and developments in the related field of personal genomics. To learn more about me or about genetic genealogy, please explore the site.”

    4. The DNA Exchange

    Authors: Allie Janson, Jessica Giordano, Kelly Rogel, Laura Hercher and Robert Resta

    The DNA Exchange is a “group of genetic counselors with an interest in public discussion of genetics-related issues. This is a place for GCs to express opinions and comment on personal, clinical, and professional issues in genetics through a centralized and public forum. We hope to engage the genetic counseling community as well as other health professionals and stakeholders.”

    5. NSGC President’s Blog

    Author: Liz Kearney

    Twitter: @nsgc_org

    “As President of NSGC, Liz Kearney is responsible for leading the association and serving as the chief spokesperson. Liz is committed to promoting the many benefits genetic counselors bring to patients and other healthcare professionals. She can also comment on issues related to genetic counselor training and licensure, public policy issues such as oversight and access to genetics services, timely news topics related to genetics, and legislative efforts and successes such as the Genetic Information Non-Discrimination Act (GINA).”
     

    Did I miss any good blogs?

    ]]>     http://www.accessdna.com/blog/2010/03/top-5-geneticsgenomics-blogs/feed/ 1     Weekly Twitter Digest for March 5, 2010 http://www.accessdna.com/blog/2010/03/weekly-twitter-digest-for-2010-03-05/ http://www.accessdna.com/blog/2010/03/weekly-twitter-digest-for-2010-03-05/#comments Fri, 05 Mar 2010 15:00:00 +0000 jordannajoaquina http://www.accessdna.com/blog/2010/03/weekly-twitter-digest-for-2010-03-05/
  • @NathanMurphy_ We have information on Factor V Leiden here: http://bit.ly/b6NmZE in reply to NathanMurphy_ #
  • @Dysautonomia If you are interested in the genetics and inheritance of dysautonomia, we have information here: http://bit.ly/9DDsNW in reply to Dysautonomia #
  • @dysauto_lady If you are interested in the genetics and inheritance of dysautonomia, we have information here: http://bit.ly/9DDsNW in reply to dysauto_lady #
  • Tomorrow is International Rare Disease Day http://bit.ly/d4g8QA #
  • @peterpassoli If you are interested in the genetics and inheritance of celiac disease, we have information: http://bit.ly/9zbfeO in reply to peterpassoli #
  • @MisterMcCeliac Hi! We have created a page on celiac disease here: http://bit.ly/9zbfeO in reply to MisterMcCeliac #
  • @Jefferson_Adams We have more information on the genetics of celiac disease available here: http://bit.ly/9zbfeO in reply to Jefferson_Adams #

    • ]]>     http://www.accessdna.com/blog/2010/03/weekly-twitter-digest-for-2010-03-05/feed/ 0     Myriad Genetics Misrepresents Data Says Yale Genetic Counseling Program http://www.accessdna.com/blog/2010/03/myriad-genetics-misrepresents-data-says-yale-genetic-counseling-program/ http://www.accessdna.com/blog/2010/03/myriad-genetics-misrepresents-data-says-yale-genetic-counseling-program/#comments Thu, 04 Mar 2010 23:42:07 +0000 jordannajoaquina http://www.accessdna.com/blog/?p=207 In a recent post, the Yale Genetic Counseling Program refutes several statements made by Gregory Critchfield, MD, MS, president of Myriad Genetic Laboratories, Inc. in a recent letter to the  Secretary’s Advisory Committee on Genetics, Health, and Society (SACGHS). The letter was sent in response to comments made by Lisa Schlager at the October 2009 SACGHS meeting in which she expressed her belief that Myriad representatives do not encourage referrals to genetic experts.  Lisa Schlager is the Washington DC outreach coordinator for the organization Facing Our Risk of Cancer Empowered (FORCE).

    The Yale Genetic Counseling Program does a great job weeding out fact from fiction as it breaks down Critchfield’s letter statement by statement.

    Myriad Statement:

    Community physicians can capably perform genetic counseling and deliver genetic services to patients in their practice.

    Fact:

    As evidence supporting this statement, Myriad cites a single study published by Keating et al in 2008.  However, Myriad distributed the surveys for this study and included a $20 prepaid cash incentive with each survey.  Myriad fails to mention that physicians in this study were frequently assisted by genetic counselors, nurse geneticists, or other counselors in providing genetic counseling.  They also fail to mention that physicians who were assisted by these other providers were more likely to provide appropriate counseling (i.e. discuss all six recommended counseling items).  Myriad also overlooks the bulk of data from multiple studies indicating that most providers lack the time, knowledge, and/or awareness of pertinent issues to provide adequate genetic counseling.”

    For an in depth look at this eloquently executed post, click here.

    ]]>     http://www.accessdna.com/blog/2010/03/myriad-genetics-misrepresents-data-says-yale-genetic-counseling-program/feed/ 1     Playdates Foundation Brings Kids with Special Needs Together http://www.accessdna.com/blog/2010/03/playdates-foundation-brings-kids-with-special-needs-together/ http://www.accessdna.com/blog/2010/03/playdates-foundation-brings-kids-with-special-needs-together/#comments Mon, 01 Mar 2010 15:45:27 +0000 jordannajoaquina http://www.accessdna.com/blog/?p=204 This is the first post in a series profiling non-profit organizations. We want to spread the word about these inspiring groups to help them accomplish their shared goal of helping families affected by genetic disease.

    Dennis Crosby is the CEO and Founder of Playdates Foundation, Inc.

    What is the Playdates Foundation?

    PlayDates Foundation, Inc. is an online based, non-profit organization that deals with socially connecting children with special needs. Our website hosts a directory of parents looking to connect their children with other children to go out on play dates. Our mission is to enrich the social quality of life for all children with special needs.

    What inspired you to start the Playdates Foundation?

    I have a 12 year old niece with Down syndrome. Over time, I have noticed the growing need for her to socially connect with other children. Her social life consists of school and a once a week ballet class. She has no real friends outside of class and no one to call on if she wanted to go do a simple activity such as watching a movie. I realized that is no life for a child to live, so I started PlayDates with the intention of correcting that problem.

    To date, what has been your biggest challenge?

    I come from a business background, so my biggest challenge has been dealing with the naturally slower moving world of non-profits. It is an industry based on dependency, so you spend a lot of time waiting on other people to act. For a new non-profit with little to no brand awareness, it makes things that much slower. Luckily, I have been working tirelessly to create a business model that allows PlayDates to be self sufficient. Once this is completed, the organization will be able to act with the speed and revenue of a for-profit with minimal overhead.

    To date, what has been your greatest accomplishment?

    The completion of the friend finder service was a huge accomplishment for us. It took 5 months and a lot of coding, but we finally launched it last month. With the service, the launching of the our new website and the gathering of our board of directors, PlayDates is primed to make our dream a reality!

    What are your goals for 2010?

    Our goals for 2010 are very big. This will be our first full year in action. We plan to expand our membership base to include over 1,000 families, launch a web show that caters to special needs children and their families, hold 3 unique events for the children (starting off with a prom) and much, much more.

    For more information visit Playdates Foundation, Inc.

    ]]>     http://www.accessdna.com/blog/2010/03/playdates-foundation-brings-kids-with-special-needs-together/feed/ 0     Weekly Twitter Digest for February 26, 2010 http://www.accessdna.com/blog/2010/02/weekly-twitter-digest-for-2010-02-26/ http://www.accessdna.com/blog/2010/02/weekly-twitter-digest-for-2010-02-26/#comments Fri, 26 Feb 2010 15:00:00 +0000 jordannajoaquina http://www.accessdna.com/blog/2010/02/weekly-twitter-digest-for-2010-02-26/
  • RT @eLobbyistIL: HB4974 *Update* Provides that “genetic counseling” can include genetic testing…. http://bit.ly/809sqB #
  • RT @XXYYProject: One of the best tools for success a parent of an XXYY boy has is Early Interventions…. http://bit.ly/bQo8cz #
  • RT @ChildrensTmrFdn: Breakthrough #Neurofibromatosis Type 2 (#NF2) research published in top med journal Cell: http://bit.ly/aVW3qO #
  • RT @Berci: Study Reveals How Genes Interact With Environment To Cause Disease (not that surprising) http://ff.im/-gcFGz #
  • @dgmacarthur thanks daniel! in reply to dgmacarthur #
  • RT @GlobalGenes: RT #raredisease at every hour!!! read a blog about #MSUD http://ow.ly/1aksc // more info here: http://bit.ly/avIUVc #
  • RT @paulafasciano: thanks for the RT #

    • ]]>     http://www.accessdna.com/blog/2010/02/weekly-twitter-digest-for-2010-02-26/feed/ 0     Severe Combined Immunodeficiency (SCID) should be added to universal newborn screening programs http://www.accessdna.com/blog/2010/02/severe-combined-immunodeficiency-scid-should-be-added-to-universal-newborn-screening-programs/ http://www.accessdna.com/blog/2010/02/severe-combined-immunodeficiency-scid-should-be-added-to-universal-newborn-screening-programs/#comments Wed, 24 Feb 2010 19:45:32 +0000 jordannajoaquina http://www.accessdna.com/blog/?p=198 Recently, the Advisory Committee for Heritable Disorders in Newborns and Children (ACHDNC) unanimously agreed to recommend the addition of Severe Combined Immunodeficiency (SCID) to the universal newborn screening panel. The  American College of Medical Genetics (ACMG) and the Immune Deficiency Foundation both support this recommendation. SCID is the first condition to be added to the universal screening panel since the ACHDNC adoption of over 20 recommended conditions in 2005.

    SCID refers to a group of genetic condtions that cause immune system dysfunction. Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. The organisms that cause infection in people with SCID are described as “opportunistic” because they ordinarily do not cause illness in people with normal immune systems.

    Infants with SCID typically experience pneumonia, chronic diarrhea, widespread skin rashes and much slower growth than healthy children.  Some affected individuals also have neurological problems such as developmental delay, movement disorders and hearing loss.

    X-linked SCID is the most common form of severe combined immunodeficiency. The exact incidence is unknown, but the condition probably affects at least 1 in 50,000 to 100,000 births.  X-linked SCID is caused by mutations in the IL2RG gene and is inherited in an X-linked recessive manner.

    Adenosine deaminase (ADA) deficiency is a rarer form of SCID, affecting about 1 in 200,000 to 1,000,000 newborns worldwide. ADA deficiency is responsible for approximately 15% of SCID cases. ADA deficiency is caused by mutations in the ADA gene and is inherited in an autosomal recessive manner.

    Other forms of SCID are caused by mutations in other genes and typically inherited in an autosomal recessive manner.

    Support services can be found at the Immune Deficiency Foundation website.

    ]]>     http://www.accessdna.com/blog/2010/02/severe-combined-immunodeficiency-scid-should-be-added-to-universal-newborn-screening-programs/feed/ 0     Considering the Politics of DNA http://www.accessdna.com/blog/2010/02/considering-the-politics-of-dna/ http://www.accessdna.com/blog/2010/02/considering-the-politics-of-dna/#comments Tue, 23 Feb 2010 23:20:44 +0000 joenuccio http://www.accessdna.com/blog/?p=175 Among other things, my five months working at AccessDNA have been a crash course in the rapidly evolving world of genetics (Thank you, Jordanna!). During this time I’ve learned that genetic research and clinical trials are helping us better understand the underlying biology of disease, which promises new approaches to treatment and, for some diseases, may one day lead to prevention. I’ve learned how pharmacogenomics promises to reduce the >100,000 deaths to adverse drug reactions in the US each year, as well as patient suffering and healthcare expenditures now incurred through the largely trial and error process of identifying effective drugs and dosage.

    I’ve also learned that absent context and understanding, genetic data may lead to misinformation, misunderstanding, misjudgment or misbehavior. In fact, I’ve learned there are a range of scientific, ethical and logistical issues to be considered; and that there are many more questions than answers. But today I learned there is another issue to be considered: the politics of DNA.

    To date, the focus of our collective investment in time and money has been on the genes themselves, rather than the natural and artificial chemical compounds that modify, or mark, them in ways that tell them what to do, and where and when to do it. Indeed, compared to what we know about the genome—and there is much we don’t know—we know almost nothing about the epigenome, the frontier science of gene expression.

    So why this emphasis on genetics over the environment? Undoubtedly, there are many reasons. But I learned of a particularly simple and compelling explanation last week from a Vancouver, Canada-based physician and author: it lets us all off the hook.

    Dr. Gabor Maté has studied the relationship between emotional stress, disease and addition through his own life story and practice in family and palliative care medicine. In an interview last week with Amy Goodman on Democracy Now, he discussed his approach to treating addiction by understanding both its biological and socio-economic roots. He noted that studies have shown hardcore drug addicts overwhelmingly to be people who entered life in an extremely adverse environment of childhood abuse, neglect and abandonment. Not only did they not get what they need for healthy development, they developed in serially negative circumstances.

    Dr. Maté believes the stress from such early adversity sets the brain’s biology up for addiction. In other words, when people are mistreated, stressed or abused, their brains don’t develop the way they should, leaving them susceptible to additive behavior. Put another way, which circuits develop and which don’t depend very much on environmental, or epigenetic, input.

    So how does the emphasis on genetics over the environment take everybody off the hook? Dr. Maté observed:

    Well, if people’s behaviors and dysfunctions are regulated, controlled and determined by genes, we don’t have to look at child welfare policies, we don’t have to look at the kind of support that we give to pregnant women, we don’t have to look at the kind of non-support that we give to families, so that, you know, most children in North America now have to be away from their parents from an early age on because of economic considerations.

    If it’s all caused by genetics, we don’t have to look at those social policies; we don’t have to look at our politics that disadvantage certain minority groups, so cause them more stress, cause them more pain, in other words, more predisposition for addictions; we don’t have to look at economic inequalities. If it’s all genes, it’s all—we’re all innocent, and society doesn’t have to take a hard look at its own attitudes and policies.

    Wow! That’s a stunning, but hard to dispute, assessment. How should we react? How will we react? Doctors might continue to treat symptoms and/or diseases, rather than people and the lives they are living. We might continue to invest treasure and time into understanding genetics while largely ignoring the role of the environment. Or we might join Dr. Maté and others in an open and honest dialog about the stress we all feel from the socio-economic systems we enable. We might more earnestly pursue epigenetic research. And we might rediscover the links between the mind, emotion and the immune system to holistically address the cause of diseases such as cancer, diabetes, multiple sclerosis and amyotrophic lateral sclerosis.

    What do you think? Please share your thoughts and opinions. Finally, my thanks to Amy Goodman and the Democracy Now team for introducing me to Dr. Maté and his work.

    ]]>     http://www.accessdna.com/blog/2010/02/considering-the-politics-of-dna/feed/ 0