A Consumer’s Reflections on #ACMGmtg 2014

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Recently, I had the opportunity to attend the American College of Genetics and Genomics meeting in Nashville, Tennessee.  This opportunity was made available to me through a travel grant application I submitted through the regional genetics collaborative that I have become involved with (since moving to PA) called NYMAC. Upon being accepted into the consumer advocate leader’s program, which is jointly run by the NCC and ACMG with additional support from the regional collaboratives, I could not wait to get to Nashville to learn more about genetics!

In my application, one of the areas that I expressed a desire to learn more about was, “the crucial role that environment plays in genetic disorders, specifically epigenetics and genomics, and how this research can translate into increased quality of life for those impacted by genetic disorders.”  As I set off on my first day of lectures this overriding desire to learn more about this crucial interplay of gene/environment interaction was on my mind! Here is a recap of the sessions I attended during my week in the Music City:

Tuesday, March 25th

Special Satellite Meeting – Bumps in the Road: Novel and Innovative Ways for Ensuring Access to Care: A Community Conversation

This session was one of the highlights of the sessions I attended the whole week! Perhaps because it highlighted consumers and consumer experiences specifically young adults as they navigated their way through what is known in the medical world as “transition” (from pediatric to adult care). I also got to meet Malory, Owen and Jasmine, 3 of the most impressive young adult self advocates I have had the pleasure of meeting! The exciting news is Malory and Owen were part of our Consumer Advocacy group so I got to learn more about them and the amazing stuff they are doing throughout the rest of the week!

Wednesday, March 26th

Advocate Leader Program – Breakfast

Our days As consumer leaders would begin each morning throughout this week, but this first meeting was my favorite! It was a time for introductions, favorite you-tube video selections, tag lines and possible blog titles! It was so amazing to learn about these individuals from across the nation that were amazing advocates for their families and themselves! From Cystic Fibrosis to Down Syndrome, from fragile X to genetic conditions we could not pronounce and ones that some of us still searched for a name for, our group covered the gamut of “genetic” conditions. We also got to meet the genetic counselors we were paired with from University of Arkansas Genetic counseling Program.

Exploring Clinical Sequencing: What Have We Learned?

I attended this session because of our family’s personal experience with clinical sequencing. I found the talks on obtaining informed consent interesting because with all our testing experiences we have seen the gamut of fully informed to not so much informed consent counseling! I gathered from some of the presentation that this is an emerging area of study especially considering all of the incidental findings that are coming back in whole exome sequencing. Making sure that the family/patient truly understand these possibilities/options is a large part of the informed consent process. 
Lunch with the advocates and learning all about the Regional collaboratives and Consumer Involvement
For the afternoon sessions I went back and forth between these two: 

Developmental Brain Dysfunction: Rethinking “Penetrance” in Genetic Neurodevelopmental and Psychiatric Disorders

I was especially interested in this session because it involved developmental and brain dysfunction two topics our family has learned a lot about and topics that involve many of our friends (not just limited to the many many children we know on the AUTISM spectrum). This session began with a talk by Dr. Thomas Challman from Geisinger Health System that happens to be in Pennsylvania. I really enjoyed his perspective because he looked BACK in the literature and history and brought some of those findings to new light, given newer genetic research. He made a statement about studies and future research looking at reported causes of developmental delays should LUMP clinical diagnoses rather than SPLIT. Dr.Challman also spoke about developmental brain dysfunction as the basis for many other diagnosis that a child may have: autism, ADHD, motor, speech problems, etc. NOT mutually exclusive of one another! In addition he sited a very interesting study from 1911:A study of heredity in insanity in the light of Mendelian theory. Dr. Elizabeth Dykens gave a talk next and I really thought her quote was spot on, “phenotypes are messy”! Really wish she would have expanded on that beyond GENETICS… and included some environmental influence talk!  
FOR THE NON-GENETIC speaking readers: PENETRANCE= the proportion of individuals carrying a particular variant of a gene (allele or genotype) that also expresses an associated trait (phenotype). 
Meaning if a gene mutation does not have 100% penetrance then not 100% of the individuals who have that mutation will get the clinical disease (phenotype).

Manifesting Heterozygotes in Autosomal Recessive Disorders

I jumped over to this talk because ever since becoming aware of this paper and the concept of “synergistic heterozygosity” I have been keenly interested in those who are considered “normal” carrier status who seem to manifest with health issues. This session made it clear that the lines between single gene disorders (like Gaucher, PKU, CF) and complex multi gene disorders (ADHD, Diabetes, etc) are BLURRED!! But they are finding that individuals who are carriers (heterozygotes for my genetic speaking friends) are at higher incidence having some other conditions- like Gaucher carriers having parkinsonian features.  Of course my knowledge of mitochondrial disease and Parkinson’s, had me screaming in my head LOOK AT MITO and the ENVIRONMENTAL factors… but alas, again, no mention of this at this session.

Presentation of the 2014 ACMG Foundation and March of Dimes Awards and Presidential Plenary Session: Genetics and Genomics; Then and Now

 This session was overwhelming from the sheer number of people in one room! Wow! The March of Dimes Colonel Sanders (of Kentucky Fried Chicken Fame) was given to Dr. Buckley and Dr. Puck who did amazing amounts of research, test development and advocacy for SCID (Severe Combined Immune deficiency or the bubble boy disease). It was fascinating to hear them tell the story of their research and implementation of this life saving newbornscreening. The moment, though, that I had to take pause, was when they said the reason this screening is important  is for those infants whose immune system is not working, especially in the situation when the  live virus rotavirus immunization is given, which could cause fatal diarrhea in an unidentified SCID patient.  I thought of all the states NOT screening for this on newbornscreening and knowing that across the country this year children will DIE of “fatal diarrhea” caused by an immunization that is touted to save their life, all because their immune status was not known at birth.  This struck me to my core, because I know from my personal experience that SCID is not the only existing underlying “genetic” condition which is harmful when combined with certain “environmental” factors such as immunization; in our world, there are many many others, which need the level of research that these 2 doctors have poured into this condition.

Thursday March 27th

Oral Platform Presentations: Clinical Genetics

The morning started off with talks on Fetal Alcohol Syndrome and recognition of facial features from this condition using an iphone picture app. Another interesting talk was Dr. Carole Samango-Sprouse’s talk on Klinefelter Syndrome (47XXY) and how using hormonal replacement (testosterone injection) had a positive impact on behavioral symptoms of this condition. I met this speaker in the exhibit hall at the Focus table for this condition and she shared with me some of her recent research about Autism and early detection here.

Baby's First Test Poster ACMG 2014

POSTER SESSIONS- One of the highlights of this session was seeing the Baby’s First Test Poster and getting to read about my NEWBORN SCREENING project on it!! 🙂


Consumer Lunch- We had a great discussion about undiagnosed conditions with Dr. Debora Boeldt and Dr. Barry Thompson (former medical director of the ACMG). I really thought this discussion brought to light how many families are out there looking for answers for their children’s health conditions but not necessarily finding them based on current commercially available medical testing. Programs like the one Dr. Boeldt runs as Scripps are so important for many of these complicated kiddos but unfortunately limited in the number of families they can accept into them.

Point/Counterpoint: One Year Later – The Influence of the ACMG Recommendations for Reporting of Incidental Findings in WES/WGS

A little background on this session: “At the 2013 annual meeting, the ACMG Recommendations on Incidental Findings (IF) were announced and subsequently published in Genetics in Medicine. There was immediate, and sometimes heated, reaction to the recommendations, positive and negative. The debate has continued despite many molecular laboratories adopting the initial list of genes to report. This session, Point/ Counterpoint: One Year Later – The Influence of the ACMG Recommendations for Reporting of Incidental Findings in WES/WGS, the impact of the ACMG Recommendations one year after their release will be discussed. A panel consisting of a clinical laboratory director, clinical geneticists, an ethicist, a health law expert and a patient advocate will debate two of the major recommendations in the report – “opting out” and reporting of incidental findings in children. The forum will be moderated by award-winning journalist Joe Palca, science correspondent for NPR.” ~ from acmg website
This session was really eye opening because it brought to light the issues that are resulting in all the data that is coming back from exome sequencing- specifically the incidental findings. Making an informed decision as to which of those variants you would like to know about is a tough one for consumers especially if you have no genetics background. I though an interesting point that I had not considered before was that to “pick and choose” which variants you would like to know and which you wouldn’t would require a genetic counselor to counsel the consumer on each and every variant and what the significance was before they were tested or variants reported!! 


Friday March 28th

Highlights Plenary Session – Moving the Field Forward: Sharing Data to Better Interpret Genomic Variation and Obtain Comprehensive Phenotypes Through ClinGen

Data Sharing was a BIG topic of discussion at this meeting, and this plenary session was focused on just that. There were 3 presentations each addressing a different challenge of data sharing from determining clinical relevance to interpretation to reporting phenotype. This session made me wonder and question just what was the “standard” or “guidelines” for reporting, describing or determining if and what variants of unknown significance are well… SIGNIFICANT. Upon returning from the trip I consulted a few professionals in the field and realized that is still being sorted out and why data sharing is so important between labs and institutions. It seems that withexome  sequesncing coming into the clinical laboratory light, there is more data and more variants of unknown significance than anyone knows what to do with…

Recording Genomic Variation and Defining Clinical Relevance

Speaker David H. Ledbetter, PhD, Geisinger Health System

Interpretation Can’t Happen in Isolation

Speaker Jonathan S. Berg, MD, PhD, University of North Carolina at Chapel Hill

Reporting Phenotype: Speaking the Same Language,

Speaker David Miller, MD, PhD, Boston Children’s Hospital

During this session I also learned about THEICCG and tweeted this:  #ACMGmtg just learned about the intl collab of clinical genomics which can be found @THEICCG don’t forget the “THE” or you get conf for call girls #notgenetics !

Day of Caring ACMG 2014

ACMG Foundation – Day of Caring Bike Presentation

I was able to attend this session and connect with a few mitochondrial disease moms and kids that I had only known online until that day meeting them! This even was organized by the ACMG Foundation and donated bicycles to children with genetic conditions, including mitochondrial disease, Prader Willi, down syndrome, etc.  What struck me as interesting (perhaps because just a few weeks before I had attended a presentation in Pittsburgh for the “my bike” program through Variety) was that all the bikes that were donated seemed to be “regular” bikes, not adaptive bikes that I know many of the children there probably needed. Many of the mito (and other kiddos) were in medical strollers, or wheelchairs with 5 point harnesses and back/neck supports, yet I did not see one bike with this type of supportive seating.  I do think this was a generous show of support from the genetics community but wonder if the support could have benefited these very special kiddos even more by adapting and customizing these bikes to fit their unique needs, catering to their abilities while compensating for and supporting their disabilities, in a way that would keep them safe from future harm.

Poster Session II – Poster Presenters at Even Numbered Posters

During this session I had the opportunity to chat with a number of researchers and doctors about their interesting poster presentations, including Dr. Niyazov who I had met a few years back at the UMDF meeting in Washington DC. He has helped a number of friends children who are struggling with mito, other genetic disorders and autistic like symptoms.

Consumer Lunch

We had a discussion about epigenetics and other environmental influences on genomics. What I gathered from this lunch is that the word epigenetics means very different things to different people. One of the ACMG staff that was joining us noted that this was a really hot topic a few years ago at a meeting but has lost some momentum and she described the word epigenetic as being the environment around DNA inside the body, not necessarily how I had understood it to mean environmental (outside the body) influences on gene expression. Interesting conversation none the less, just wish these conversations were happening in the main sessions and not just among the curious consumers with a few professionals present.

Diagnostic Dilemmas (Rare Knowns and Unknowns)

This session I felt was one of the most interesting and “real life” events of the entire conference. The format was 8-10 genetic doctors presenting a few slides and symptomatology of their “toughest” cases, ones that their investigations thus far had not led to a diagnosis.  The audience, a packed house of geneticist, genetic counselors and attendees would step up to the mike and ask if they had tested this or that, considered this or that, etc. It was almost like watching a “House” episode but far from Hollywood, these were children of parents just like myself who were searching for answers….heartbreaking because a few of the cases had passed away or had siblings who had passed away from something similar.

Saturday March 29th~ Last Day

Cardinal Signs and Symptoms of Inborn Errors of Metabolism – Focus on the Brain

This was a fascinating session both from the perspective that it addressed one of my passions: conditions covered on newborn screening and that it focused on the brain and the neurological implications that metabolic conditions can have on that system. I was very sad to have missed the first talk by Dr. Carol Greene (because I was chatting with a few advocates at our last breakfast, and saying goodbye). Her talk was entitled,” 
Inborn Errors of Metabolism and the Brain – What You’re Seeing In Your Practice Even If You Don’t Recognize It” 
Some of the other talks addressed many conversations of interest in the mitochondrial world- including creatine and B6 and thiamine metabolism.  The Krabbe disease talk highlighted some of the challenges with implementing newbornscreening testing that involves a treatment (bone marrow transplant) that is invasive when the testing is not definitive enough to determine which children will absolutely manifest the condition without treatment. Here is a rundown of the other speakers and their talks:

Inborn Errors of Metabolism and the Brain – What You’re Seeing In Your Practice Even If You Don’t Recognize It

Carol L. Greene, MD, FACMG , University of Maryland

Brain Creatine and Autism: Can Therapy Change the Outcome?

Nicola Longo, MD, PhD, FACMG, University of Utah

The Disorders of Glycine Metabolism

Johan L. Van Hove, MD, PhD, MBA, FACMG, University of Colorado School of Medicine

Krabbe Disease: What Can We Learn From Newborn Screening for Lysosomal Storage Disorders

Melissa Wasserstein, MD , Mount Sinai School of Medicine

Glut1 Deficiency and other Metabolic Causes of Microcephaly – Recognizing Treatable Conditions

Lynne A. Wolfe, MS, CRNP, BC, National Human Genome Research Institute

Closing Plenary Session Revisiting “Duty to Recontact” in the Genomics Era: Interdisciplinary Perspectives & Open Forum (Funded by the ACMG Foundation’s Father Robert C. Baumiller Fund for Genetics and Society)

In this last session of the conference the topic of  “duty to re-contact” was discussed. For my non-genetic friends, this means if new gene discoveries are made and a variant of unknown significance becomes a deleterious mutation or the flip side- a family has been told child has terminal/neuro-degenerative condition and lab reclassified the mutation and finds it is not terminal condition, WHAT is the ethical duty for the geneticist/genetic counselor to RECONTACT the family to let them know.  This session began with a comical “play” with real life geneticists playing the part of distraught parents, and while I understand the intention to educate and illustrate while entertaining the audience on the last day of the conference, I couldn’t help but feel a tinge of uneasiness, pain and sorrow, as I watched played out before me on “a stage” what our family and so many of my friends and acquaintances had lived through in genetics offices all over the country… hope, anticipation, and the very real reality that a very expensive laboratory test that was supposed to yield some answers only yielded many more questions.  On the flip side, I sat in shock as I watched the FLIP side being played out in the drama of a family who was told a gene their child had, was identified as a neurodegenerative disorder only to be RE CONTACTED later and be told it was not neurodegenerative as the “actor/geneticist” wondered and hoped, “I really hope Johnny’s parents have not tried any of those alternative treatments that could have harmed Johnny,” as he makes the call you hear him telling Johnny’s understandably distraught angry father on the other end of the line, “I am sorry you have spent your life savings on a treatment for him but I am glad he is unharmed.” Wow, just WOW. I guess I have not known a family who this scenario has actually happened to, but I sat there in disbelief that it was happening and being discussed at this meeting. It further made me realize that again, the testing that is being done is yielding more data than ANYONE knows what to do with and annotating this genetic data in correlation with clinical symptoms and phenotype is no easy task, and one which a moral, ethical and legal responsibilities should NOT be taken lightly- these are the lives of children and families, my family, your family. Another stark reminder to me that genetics cannot be examined in a bubble without considering other factors, namely genetic influence. It is again my hope that this conference will consider exploring this interaction more fully in the future.  

Summary Tweet: #ACMGmtg what I learned: #genetics moving beyond single gene disorders, #WES gives you more data than you know what to do with, & environmental/gene influence was barely mentioned at this meeting.


A few other questions from NYMAC on my take-aways from this experience

  • How do you see attending the ACMG Annual Clinical Genetics Conference benefitting your role with NYMAC?

I believe this experience has given me an opportunity to connect with and network with consumers across the country and I believe this experience will only enhance my involvement as a consumer within NYMAC. By sharing ideas and finding out what is going on in other regions of the country can lead to collaborations and information sharing as well as partnerships for new projects across all regions. Interacting with the other consumers was absolutely the highlight of my experience at this conference, even though as parents and self advocates we were each dealing with very differently “named” conditions (or some not named yet at all). There was commonality in the journey and some of the very same struggles whether that be communicating with medical porfessionals, navigating insurance companies or determining the right course of action for working with a school district, there was comfort and commonality knowing that you were not in this journey alone!

  • Please specify at least one action item you would like to implement in NYMAC’s consumer collaborative network (CCN).

One action item that I would like to implement from this experience is to have more of a presence and resources for those who are on the undiagnosed disorders journey or those who have not reached a definitive diagnosis. I believe this group of individuals and families often get forgotten because they do not have a disorder identified on newborn screen or one that is diagnosed early. Yet, after meeting a number of other consumers at ACMG, nearly half of us were facing this still yet undiagnosed (definitively) journey. In talking with other advocates I realized this may be a time when a family needs  support and resources most but do not know where to turn because they do not know who to identify with, I am hopeful this is an area that as consumers in NYMAC , we could fill in.

  • What can we do differently to improve the consumer engagement?

I felt during the entire meeting that even though we were attending general sessions with professionals and researchers and counselors, that the consumer program was quite a bit separate from the ACMG meeting itself. There were a few panels that I felt may have been enhanced or benefitted from a consumer voice on the panels but instead there was only professional representation (even though some of the topics VERY MUCH involved consumers- such as returning incidental findings and re-contacting patients with variants reassigned). In addition, I think having the genetic counseling students more engaged in consumer education specifically genetic terminology could have been beneficial. I was familiar with some of the terminology but found that some of my peer consumer advocates were not. Sitting in sessions where a language of alleles, penetrance, heterozygosity and autosomal dominance are thrown around like “if, and and the”, one’s head can begin to spin if you are not familiar with the “lingo”.  A “genetics 101” course taught on the first day of the meeting for the consumers by the genetic counselors in training, perhaps could even the playing field of consumers actively participating in some of the meeting sessions. On the way to the conference I bought a book called, “What’s in your Genes?”                            by Katie Mc Kissick.

whats in your genes

This very light-hearted approach to the simplify the science and make terms like deoxyribonucleic acid understandable in layman and laywomen’s terms, was the perfect way to transition my mind into genetics mode. Perhaps a book like this could help other advocates, navigate the “language” of the new country on this new diagnostic odyssey they have embarked on!

Last but not least…  swag you can only get at a genetics conference!

ACMG Exhibitor Giveaway



About Empowered Advocacy

www.EmpoweredAdvocacy.com Pediatric Patient Advocate
This entry was posted in Advocacy, Autism, Baby's First Test, Genetics, Medical, Mitochondrial Disease, Newborn Screening, Research and tagged , , , , , , , , , , , , . Bookmark the permalink.

1 Response to A Consumer’s Reflections on #ACMGmtg 2014

  1. Michelle Black says:

    You must have taken a lot of notes. Great job on the reports.

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