Case Study Series: 1

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 :


Genomics England Showcase 21

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.

Register here:


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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:

Rare disease symptoms – Genetic testing and the role of a genetic counselor

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:

  1. Facial features (common example: Down Syndrome: Flattened face, specifically across the nose bridge, almond shaped eyes, short neck and other unique features)
  2. Some may be congenital symptoms and some may develop with age.
  3. 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.

Coffee with Elizabeth Varga – on Genetic Counseling and beyond

Recording now available

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.

Recording below:

Initial fertility investigations – First steps when your patient has trouble conceiving

Webinar 7 Jun, 7:00 PM – 8:00 PM (AEST)

This webinar will cover male and female fertility testing to better assist patients who want to start a family including:

  • Fertility testing for females (AMH, medical history, blood tests to measure ovulation, antenatal serology, pelvic ultrasound)
  • Fertility testing for males (semen analysis, medical history, blood tests)
  • Pre-conception genetic screening
  • How to identify issues, when to refer, plus the NSW government fertility testing rebate

Learning outcomes

  1. Learn how to identify patients who may require fertility assistance
  2. Learn the first steps in investigating fertility health
  3. Know the fertility testing options for females
  4. Know the fertility testing options for males
  5. Learn when to refer to a specialist

Register here

Why understanding implications of Genetic testing is important?

Neuropsychiatric genetic testing

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.

How will the 21st Century Cures act affect genetic counseling and testing services

Wednesday, May 19, 2021
11:00 AM ET / 8:00 AM PT
Hosted via Zoom

Topics covered will include:

  • An overview of the Cures Act as it applies to genetic and genomics services
  • Stakeholders that must consider this legislation, including labs, genetic counselors, physicians, health IT developers, and payers
  • What to consider in formulating plans for compliance and to avoid information blocking
  • How the landscape may evolve over time