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 :

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.

Interview with a Genetic Counselor – Erica Pai (MS, CGC, CCGC)

Erica Pai, MS, CGC, CCGC, completed her Bachelors of Science Honours degree in Life Sciences at Queen’s University in Kingston, ON, Canada. Following graduation, she worked in northern Japan for three years on the Japanese-government sponsored Japan Exchange and Teaching Program. The skills developed working in a team-teaching environment, simplifying and explaining concepts, and working with interpreters, were all put to use through her Masters of Science in Genetic Counseling training program at Northwestern University.

Erica entered the ART field in November 2016 as the sole Canada-based genetic counsellor for Genesis Genetics, now part of Cooper Surgical Fertility and Genomics Solutions (Cooper Genomics). After three years of counselling about PGT, liaising between patients, clinics, and laboratory, and supporting the Canadian genomics team, she transitioned to a more comprehensive role on the International & Operational team, where her new primary responsibility is providing support to Cooper Genomics’ overseas laboratories and patients, in addition to assisting with Clinical Quality Control activities.

Erica now enjoys speaking at local fertility clinics and genetics centers about PGT testing to increase awareness and understanding in her field.

Interview with Erica Pai (Canadian board certified and American Board Certified Genetic Counselor)

Interview with a Genetic Counselor – NPE & Ancestry Testing

Interview with Brianne Kirkpatrick – Founder of Watershed DNA

“The DNA in your body is 99.9 percent identical to 99.9 percent of other people’s DNA. What about the other 0.1 percent? Variations in this tiny portion of our DNA explain why individuals have different health risks, resemble relatives and can sometimes be identified as belonging to particular ethnic groups.” “Ancestry testing” is a category of DNA testing that has grown in popularity in recent years. People order this type of at-home DNA testing to answer questions like: “Where did my ancestors originate?” and “Can I find relatives using DNA testing?” Many people are interested in answering both of these questions. – As described by Brianne Kirkpatrick

Brianne Kirkpatrick is a Genetic Counselor, DNA coach, author, and founder of Watershed DNA. Brianne’s combination of skill and compassion enable her to support people in the aftermath of a surprise DNA discovery. She guides people uncovering a situation of NPE (not parent expected), coaches those preparing to share a DNA secret, and assists those attempting to search for biological family find the right path forward. An alumnus of Indiana University and Northwestern University, Brianne is a member of the National Society of Genetic Counselors, American Board of Genetic Counseling, American Counseling Association, and International Society of Genetic Genealogy.

As the home DNA test marketplace continues to grow, the role of the genetic counselor is likely to evolve dramatically to include assisting clients with the interpretation of and adaptation to these results, as well as advising the companies involved in this sector on the ethical, legal, and social issues associated with this testing. The value of having genetic counselors involved in the home DNA testing setting has been identified by a number of professional societies (NSGC 2015a; ACMG Board of Directors 2016). (find links to more such articles by Brianne at the bottom of this blog post)

Relevance of Ancestry Testing to Genetic Counselors

Ancestry testing lies at the intersection of genealogy and genetics. Genealogy, the tracking of familial lines through documentation of marriages, births, and adoptions, is the second most common hobby in the United States (Farnham 2012). The value of integrating genealogy studies for health and genetic studies is growing in recognition, as demonstrated by a growing list of scientific publications (Cannon‐Albright et al. 2013; Carbone et al. 2015; Daya et al. 2013; Norton et al. 2013; Scholand et al. 2013; Stefansdottir et al. 2013; Zaitlen et al. 2013).

Below I am including information from an article where Brianne Kirkpatrick states some important notes for genetic counseling and the future for Genetic counselors in Ancestry testing. I believe this will be of key relevance along with the interview session to get a good overview of the relation between genealogy and Genetics, of Genetic counseling to Ancestry and how this could also be a potential area in Genetic Counseling:

Guidance for Genetic Counseling in Scenarios Involving Ancestry Testing

Practice guidelines for genetic counselors do not yet exist for ancestry testing. Until guidelines are available, we offer some thoughts for best practices.

  • Support and validate the client’s desire to understand more about genetics and the implications of DNA discoveries for themselves and their family members.
  • Consider your responsibility as the Genetic Counselor – determine is this inside of my specialty or not? Recall that discussing the benefits, limitations, and residual risk associated with genetic testing is within the competencies of all counselors.
  • Ancestry testing is a significant part of the home DNA testing market and as such, genetic counselors have a responsibility to learn about the testing; when someone has questions, listen, validate, support them, and seek additional resources and information.
  • Acknowledge the value of ancestry testing as a tool for exploring identity, ethnicity, family, relationships, and how they can connect to health. Do not fall into the trap of seeming dismissive of someone’s choice to pursue testing.
  • Briefly inquire into the goals of the person ‐ could the information be obtained another way? Is the answer they are seeking available from ancestry or other DNA testing?
  • Ask, will you know where to go if you have questions or need support after testing?
  • Answer the questions you can, and refer if the client desires additional genetic counseling beyond your scope of practice; search the “Find a Genetic Counselor” tool for GC’s who list Personalized Medicine and/or ancestry testing as a specialty.
  • Understand and point out benefits of genetic counseling services, such as the provision of information, supporting improved communication between family members, and enhancing psychological well‐being.

Future Directions of Ancestry Testing and Paths for Genetic Counselors

There is a tremendous amount of work already in function and progress on relating Genealogy to Genetics considering the large amount of genomic databases coming from customers from a precedent setting and a place not described before in medical research.

From what we’ve learnt through the interview and the growing cases and interests in Ancestry testing, in NPE people, it is highly evident that there will be growing opportunities for the integration of genealogical research and ancestry testing, genetics research, and healthcare. There are many possible roles for genetic counselors in an expanded future of genetic genealogy. Genetic counselors have already begun to serve in roles for research groups in this niche. 

 Just as genetic counselors are employed at increasing numbers by commercial laboratories, a future with genetic counselors employed at genealogy firms, ancestry companies or startups entering this sphere is likely. The value of the genetic counselor’s skills are clearly evident.Communication of complex information for a variety of audiences is a core feature of the successful graduate from a genetic counseling training program. Project management and leadership, provision of psycho-social support, research and writing skills, case development and follow‐through, and resource identification for customers are a few of the many other skills of a genetic counselor that fit with the needs of companies in this market.

Related publications:

DNA, Ancestry Testing and You – Brianne E. Kirkpatrick

Ancestry Testing and the Practice of Genetic Counseling – Brianne E. Kirkpatrick, Misha D. Rashkin

Meet Brianne Kirkpatrick, Watershed DNA Founder

When the DNA Test Reveals Too Much

Genetic counseling in South Africa – Interview with a panel of Genetic counselors

University of Witwatersrand

Johannesburg,South Africa

As most of my viewers might be aware, I had begun working on a new project where I aim to speak with Genetic counselors around the world. I believe this will give everyone a good overview of how varied genetic counseling is around the globe. What are the major differences, how is the approach towards this profession. Also I strongly feel that exploring genetic counseling around will help us learn new skills and techniques that each country/culture adapts.

I am greatful and thankful to all the members of genetic counselling department at University of Witwatersrand, who have given their precious time and inputs to this project of mine.

I hope you all will find this interview insightful and will learn something new out of it. Thank you Monica, Barry, Merlyn and Bianca for this amazing session with me.

Do write comments if you found this insightful, if anything stood out or was surprising!! For those who are applying for upcoming intake, Good Luck 💐 we are always one step closer to our goal. For those who started their journey to Masters this fall, congratulations🥂

Learning and evolving through this journey of genetic counseling. Stay tuned, for next interview with a Genetic counselor all the way from India !!