Observing genetic counseling cases, having the opportunity to shadow virtually or physically is one of the greatest advantage for many aspiring gc’s and students. This not only adds value to our applications but also is a great way of developing our skills and knowledge in this field of genetic counseling.
However, we are all aware this opportunity is hard to find, which made me create these Case Study Series. It would be my privilege to be able to share my case study experiences and role play notes with rest of the community out there.
To begin, below case scenario was published on my insta acc: aspiringgc2020 and I’m glad to have received a whopping number of colleagues willing to do a zoom discussion on this case study series: 1
Keeping everyone’s timezone in mind ( which was confirmed through Instagram poll) below is the timing and date that works out best for majority :
Please RSVP below with your email address, so I can send the zoom invite :
Could WGS increase the early detection and diagnosis of genetic conditions from birth and improve long term outcomes?Recent advances in technology and our understanding of Genetics presents an opportunity to explore the role genomics can play in expanding screening in early life and enable healthcare research to support a more tailored healthcare in future.Join this FREE virtual GEInnovation21 session on 29th September.
Rare diseases effect more than 300 million people worldwide. Children typically wait six to eight years before being diagnosed
Genetic conditions, where often the precise cause or the mutation causing the condition is unknown!! Such is the scenario of a rare disease diagnosis. In such complex jigsaw puzzle where you do not have set designed rules and defined explanation, it is understanding the symptoms of each individual person affected that helps make the genetic diagnosis accurate.
There are around 7,000 identified or perhaps even more of unidentified rare diseases; each with its own unique set of symptoms or features. These features can range from developmental delay, to facial features and to medical and health conditions. Symptom have often been observed to affect multiple parts of the body or body systems. Also, whats really complicating the already complicated situation is that the symptoms can range from a scale of mild to severe and often siblings or related affected individuals might display slightly different symptoms or levels of moderation in the symptoms.
For most of you may know by now, most of the rare diseases are not treatable at least in general, however if the symptoms are identified and their level of severity is known it can be controlled or treated. In other words, early diagnosis may help in controlling the elevation of symptoms and its impact on an individuals health and development.
Most commonly identified symptoms:
Facial features (common example: Down Syndrome: Flattened face, specifically across the nose bridge, almond shaped eyes, short neck and other unique features)
Some may be congenital symptoms and some may develop with age.
While, some may be identified at infancy or early childhood.
Genetic screening and diagnosis by a Genetic counselor:
Genetic counselors use a combination of skills such as identifying a set of symptoms along with considering and analysing the family medical history in form of a pedigree chart to further understand the kind of genetic condition of these unique features.
This above step is highly important and basis of an accurate diagnosis, reason being that genetic testing is highly target specific and only doing the above step right will help a genetic counselor decide which genetic test is appropriate in which case. Genetic counselors here play a crucial role in doing an in-depth study and analysis of physical examination of symptoms displayed and family medical history collection by using a variety of skills in their counseling session with the patient and their families which you can imagine is all generally done in a timeframe of 40 mins to 1 hour sessions.
A dependence on a subjective assessment can lead to errors in diagnosis. This is shown with Ehlers-Danlos again, where up to 56% of patients with the syndrome receive a misdiagnosis at some point during their diagnostic journey.
Rare disease diagnosis and future:
In recent years there has been an increased awareness of the importance of improving the accuracy and rate of diagnosis for rare disease, even for those with an as yet unknown precise genetic cause. There are upcoming AI supported technologies which help in performing the facial feature analysis and comparison of identified features with existing data of rare disease symptoms to accurately diagnose the genetic syndrome. This then also helps in generating a report of analysis which further is studied by a genetic counselor for better understanding.
Genetic counseling is now a widely recognised profession around the globe and is still picking up but at a rocket pace and one can only understand why there is more and more demand for genetic counselors and the extensive trained medical knowledge plus the communication skills they bring along to this field of genetic testing and genetic diagnosis.
It is an honor to have Elizabeth Varga as our next guest, for she comes with a decade of exposure in not only genetic counseling but also in breaking the norms and moving towards a non- traditional approach in career growth.
Ms. Varga, LGC is a licensed genetic counselor in the state of Ohio and currently serves as Director of Customer Success at Genomenon Inc. Liz has over 18 years of experience in the field of genetics and genomics, having worked in areas of prenatal, pediatric and cancer genetics. In February of 2020 Liz transitioned to industry, first as a genomic testing consultant at PerkinElmer Genomics, and later to Genomenon Inc. Genomenon is a genomics AI biotech company based in Ann Arbor, Michigan. As Director of Customer Success, Liz provides customer training, on-boarding and support to customers of the Mastermind Genomic Search Engine, while contributing to the senior management team regarding customer strategy.
Ms Varga also provided genetic counseling and facilitated genetic and genomic testing for patients and families with hereditary blood disorders or suspected hereditary predisposition to cancer. She also served as co-director of the Hematology/Oncology/BMT personalized medicine program and was involved with clinical and research protocols through the Institute for Genomic Medicine at Nationwide Children’s Hospital. Ms. Varga served on the Board of Directors for the National Society of Genetic Counselors, and has participated in education and advocacy as part of the National Blood Clot Alliance.
Through this seminar we really hope to learn from Ms. Varga on her experience in this profession and on how to progress towards niche or non- traditional pathways in genetics and a lot more.
Genetic testing has rather evolved over the past few years and people get to know how resourceful genetic testing can mean to them and their families, yet there are limitations and struggles of how much of genetics does a person understand. Having the right knowledge of what genetics mean and how it is interpreted are core elements of maintaining the balance between the pros and cons of deciding to get a testing done.
Stressing on the importance of genetic counseling before and after testing or rather to put it forward: during the entire customer/patient cycle of thinking of testing to the other end of getting the test or not and receiving expected outcome or VUS/ unexpected results is the most crucial aspect of maintaining this balance in healthcare. Here we discuss specifically on genetic testing in one such niche areas of neuropsychiatric genetics.
This field of genetic counseling covers the psychiatric disorders and its relation with genetics of a family. As niche as this field is, it is also one of the areas with great doubts and ambiguity. Recently, there have been news around of companies offering couples to select embryos that are considered to be at lower risk of psychiatric conditions such as schizophrenia. There are many ethical issues associated with this and also practical questions around how effective is this. What this sort of testing can cost, what they imply and is it really resourceful to do for families.
We first discuss, how Genetics is related to such health conditions:
Most human conditions are caused by different combinations of genetic variants and our experiences or rather environmental/multifactorial. It is known that schizophrenia can be caused due to hundreds of different genetic variations and it is also said that almost every human would have some form of this variation. Individually, these genetic variations each makes up only a tiny chance of someone developing schizophrenia. In general, there is around 1% chance for any of us to develop schizophrenia.
So, you may ask: ” what if we look at all the genetic variations together, at the same time and would that give us better picture of whether or not someone would develop this condition?” Answer is, this is exactly what such companies are focusing on in their genetic testing panels.
Polygenic Risk score:
The above concept of testing for all those variants that can contribute to a condition at the same time together generate an estimate of the combined risk is called Polygenic risk score (PRS). How useful a PRS is depends on the condition being tested for. In specific, for schizophrenia it is known that all variants added together still explains only 11% of an individuals overall risk of developing this condition. Which in turn means, it does not explain the remaining 89% of what that particular embryo might go on to develop as. This interprets that one such embryo testing does not guarantee that it would or not develop into a child with such condition.
Deciding factors for a genetic testing:
Examining your reasons for a testing is the first deciding step. From spending money to wanting the best fo their children and having seen how schizophrenia can affect people, being afraid to passing on. This also has to do with psychological aspects of a human mind on wanting to control: a sense of feeling to reduce risk. Here’s where a genetic counselor could really come to rescue in dealing with propping questions and feelings. Often observed with only genetic counseling and no testing it can help people understand how this conditions arise and what actions can be taken to reduce risk.
Guilty admit!!! This has definitely happened to me many times while reading a journal article. With attending so many journal clubs in past few years, I have come to agree, this is a beautiful safe space where we all gather to discuss our views in detail on a particular educational related article.
This space of journal reading not only helps us to network with others in our field of interest but it also helps us build many crucial interpersonal skills and one of the most important ones which is to non- judgmentally accept the different perspectives of each member.
With that said, its crazy how we are almost already welcoming March month this year and below is the registration and topic details for March 2021:
TOPIC: Exploring how mothers of a child with a genetic disorder experience their couple relationship in a low socio-economic setting
When: Friday, 12 March09:00 PM Eastern Time (US and Canada)
Saturday, 13 March 2021 at 7:30:00 AM Indian Standard Time (Delhi, India)
Saturday, 13 March 2021 at 1:00:00 pm AEDT (Australia, Sydney, Melbourne)
All the ones that had registered the last time will receive the registration link and article for every months Journal club. Others can still register below:
No, we are not here to talk about a movie. But honestly, isn’t this the kind of question a patient comes with when visiting a genetic counselor? Well, at least in most cases, yes!!
Now, Imagine the intensity of this question in case of WGS and WES, where Secondary/Incidental findings are behind this DOOR.
Know The Basics
Patients and families can have varied responses to receiving genomic testing results, specially in case of WGS or WES whether positive, negative, uncertain or unexpected.
Collaboration in patient management between the referring provider and genetic counselor will lead to optimum patient care. The genetic counselor typically provides support and guidance in developing a management plan based on results. Even before we get to this management stage, what are these different results:
Positive result: A mutation was found that is known to be associated with your medical concerns. The response to this result can often be complex as some families may experience stigma or shame surrounding the fact of genetic or congenital disease or linked findings. Inherited conditions impact the whole family and result in feelings of parental guilt. On other hand, many families that undergo testing have already been through exhaustive journey of search for diagnosis and finding a pathogenic variant may provide relief and an end to long diagnosis odyssey.
Negative Result: Contradictory to above, receiving a negative result meaning no casual variant is identified, the patient and family can be feeling a sense of disappointment or a lack of diagnosis feeling as they had already made a strong mindset expecting or suspecting a syndrome. Here, it is the role of Genetic counselor to provide management plan based on clinical presentation and family history, discuss further testing if needed now or in future and mainly provide counseling to help patient/family cope with these feelings of lack of diagnosis and address psychological concerns.
VUS Results: Variants of Uncertain significance(VUS) may be reported in many tests and can be likely many in tests such as multi-gene panel, exome and WGS. Patient reactions can be very similar to that of negative results and involves regular follow up on VUS classification with the genetic provider.
Of all the above, today’s major highlight is on SECONDARY FINDINGS:The findings you weren’t looking for!!
When Exome sequencing is done, there is an option to learn about other genetic mutations. these are mutations that are not related to your primary reason of diagnosis. If these other mutations are found, these are then called secondary findings. These secondary findings although unrelated to primary reason for testing, yet can be a cause for some serious disease or heart condition which can lead to sudden death. Secondary finding can also recognize mutations which might show that patient might be risk at severe response to certain type of medications. Paradoxically, while these variants are ubiquitous in the genome, their presence must be actively sought from among the vast number of other genomic variants in order to be identifiable and reportable.
Impact of such diagnosis:
Whether a diagnosis was desired or unexpected, coming to such diagnosis often raises additional questions for the family around medical arrangement, life expectancy and social issues. There may also be healthy or reproductive risks for family members such as siblings.
Role of Genetic counseling in this aspect:
Genetic Counselling as we all know is a profession focused around the central element of non- directive approach and “patient choice.” This element plays a key role in the process of addressing secondary findings. There is a huge room for flexibility in approach and workflow to follow in genetic counseling setups and the common view from many research studies have suggested that dealing with secondary findings and whether to get secondary findings, whether to disclose or not; all these aspects lie inside the circle of the patient case you are dealing with, pre-counseling and setting expectations, providing clear information on test options, what these tests can mean to the patient and their family, their rights to informed consent and choice to not know these results and alternatives.
An example of one such workflow:
Tips for supporting families with genomic test results:
Being aware of factors that can influence understanding of or coping with results:
a. Potential emotional reactions to results
b. Existing experiences and underlying pyschosocial issues
c. Health Literacy level and baseline understanding of genomic testing
2. Elicit knowledge and validate unique feelings that arise from genomic results.
3. Think ahead about the kinds of pyschosocial referrals that might be appropriate and have support resources specific to diagnosis available to provide.
4. Create a plan for next steps with family, specific to their results.
Recommendations by many different boards of Genetic Counseling:
Include awareness of results to expect in pre-test counseling and informed consent discussion.
Make them aware of their rights and choice to receive or not receive such variant or secondary findings results and what could be the implications of their choice and the results itself. That being said, enabling a patient to make an informed decision remains the responsibility of the clinical provider, a role that has not changed with the expansion of testing from single gene tests to whole-genome sequencing.
The responsibility as to how, when, and, if results should be communicated is on a medical professional’s judgment. This patient-centric approach demands a robust informed consent process prior to clinical sequencing. It prompts questions of which information should be included and how it should be tailored to promote patient understanding.
Ongoing Follow- up: Regardless of result, the genetic counselor may recommend follow up with patient every 1-2 year.
Provide References to external support or to a clinical specialist and other support groups to help deal with psychological feelings.
Finding the balance between the appropriate degree of professional guidance and individual choice will require more than vigorous commentary and the reporting of subjective data on hypothetical preferences, but will require empiric data on actual decisions and their outcomes. There is a growing need to evolve and advance the traditional models of informed consent and disclosure. There is also a demanding need to develop educational strategies to enhance the way people make informed decisions that streamline, yet complement, the genetic counseling process. The most crucial aspect though still relies on interpersonal dialog of a genetic counselor to help people understand and reach complex decisions and information into a healthier choice for their individual self and family life. Educational strategies that touch both the cognitive and the emotional chords in the decision-making process by helping patients forecast their short- and long-term emotional responses to their decisions will help keep genetic counseling relevant regardless of what genomic testing looks like in the future.
Interesting videos and resources for further reference:
Are you anxious/nervous/lost looking for resources and not sure where to begin from?
Are you interested to speak with a current grad student and also listen to their journey on getting into grad program? This is your chance to register for Part 1 session on Journey of applying to universities and journey up-to the stage of interview.
We will be conducting part 2 session of interview process, rank and match day hopefully in the next 1-2 weeks and registration will open soon.
Topics that will be covered in the Part 1 session:
GC students introduction and their journey to grad school in brief.
Overall Application Timeline
Cost of Application process
Preparation for application
Helpful resources and tips to share
Pre-requisites and how he met the requirement, extra curricular and any recommended experiences to have for strengthening application.
Finding Genetic Counselor to shadow or alternative options due to Covid19
Writing personal statement and LOR’s – how many to take and who to ask?
Deciding schools to apply – Factors considered for shortlisting options.
A 20- 25 mins discussion round for any questions on application process. Please bring through any doubts or questions you may have. Please also register only if you think you will be able to block your calendar to make it, so that all the students have an opportunity to join. Only 20 seats available.
When: 5th February 2021 EST / 6th February 2021 IST/AEDT
Time: 8.30 PM EST
Please make sure to convert time and date as per your time zone. Link to the meeting will be sent after registration. Please come in your comfy PJ’s and a cup of coffee/tea or snacks 🙂
Free live conference on hot topics related to Genetic testing. Speakers are real time working professionals in this industry. For detailed information and registration form, click on the above brochure and download the file.
Some of the highlights as on brochure are :
Also, here’s the registration form to be filled and emailed to details on bottom of the form: