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.

The fate that lies behind the door!!

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.

Genetic Counsellor, Centre for Genetic Medicine, SickKids

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:

  1. 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:

  1. Include awareness of results to expect in pre-test counseling and informed consent discussion.
  2. 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.
  3. 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.
  4. Ongoing Follow- up: Regardless of result, the genetic counselor may recommend follow up with patient every 1-2 year.
  5. 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:

  1. Whole Exome Sequencing Secondary Findings :
  2. Possible Exome Sequencing Test Results:
  3. Pros and Cons of Secondary Findings:
  4. Diagnostic uncertainties, ethical tensions, and accounts of role responsibilities in genetic counseling communication:
  5. Genetic Counseling in the Era of Genomics: What’s all the Fuss about?:
  6. Disclosing Secondary Findings from Pediatric Sequencing to Families: Considering the “Benefit to Families”:
  7. Criteria for reporting incidental findings in clinical exome sequencing – a focus group study on professional practices and perspectives in Belgian genetic centres:
  8. Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice:

Journal Reading- Feb 2021

TOPIC: Genetic Counseling Consideration in Transgender Patients. Cultural Competencies and altered disease risk profiles

When: Friday, 12 February 09:00 PM Eastern Time (US and Canada)

Saturday, 13 February 2021 at 7:30:00 AM Indian Standard Time (Delhi, India)

Saturday, 13 February 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:

What it takes to have a competitive application? – With Jason (gc.journey)

Are you in mid of your application journey?

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 🙂


Registrations have now closed for this session.

Advances in Genetic Counseling – During the COVID-19 Pandemic

2020 will always be remembered as a turning tipping point in the history of healthcare and other industries. We’ve seen many new emerging technologies, trending techniques and innovative solutions to the usual norm of world functioning.

Among all these emerging technologies, one that specifically stood out in genetic counseling and perhaps also other areas of healthcare is “Telehealth”. Here’s highlighted study data by one of the leading genomic technology, services and strategy company : Genome Medical.

Telehealth is an especially good fit for medical specialties where patient information can be collected and reviewed ahead of time and where a physical exam and patient vital signs aren’t absolutely required. In addition to mental health services and medical specialties such as dermatology, genetic services fall squarely into this category.

  • Starting in the second quarter, millions of people participated for the first time in virtual visits with their health care providers. While the impetus was the COVID-19 pandemic, indications are that many patients appreciate the convenience and safety that virtual care offers. A McKinsey survey in May found that 76% of respondents said they were interested in using telehealth for future care.
  • Genome Medical announced recently that  its virtual genetic services are now available in-network to nearly 90 million people through payer contracts across the country. This accelerated availability of on-demand genetic expertise will expand the application of genome-enabled health care and precision medicine to benefit more patients.  

The 90 million covered lives are across multiple payers, including (in part):

  • Cigna (national)
  • United Healthcare (California)
  • Blue Cross Blue Shield plans in eight states (Massachusetts, Michigan, New Jersey, Oregon, South Carolina, Texas, Utah and Washington)
  • Kaiser Permanente Northwest
  • Priority Health
  • MultiPlan
  • Three Rivers Health
  • Here’s what Genome Medical had to say on how they achieved desired results:
  • “Genome Medical brings together telemedicine and genomics to tackle the rising need for genetic experts to guide patients and providers in making appropriate decisions around
  • 1) who should get genetic testing,
  • 2) which test is optimal and
  • 3) how clinical care should be changed based on test results,” said Steven B. Bleyl, M.D., Ph.D., chief medical officer of Genome Medical.
  • “Patients can be seen sooner, and through telehealth, we extend the reach of genetic services to rural communities and undeserved areas that have less access to in-person care. Genome Medical is a flexible and cost-effective solution for payers and their members.”

Genome Medical can see 85% of cancer patients more quickly than in a traditional clinic setting. And in areas like pediatric genetics, where wait times of six months or more for an appointment are common, Genome Medical’s growing clinical team can often see patients within a few days.

Telegenetics Advantages

  • Efficiency – Virtual service delivery allows health systems and hospitals to serve more patients more quickly because appointment capacity can be rapidly adjusted to match patient volume.
  • Genome Medical: “Not only are they reaching out to the member within 48 hours, but they’re also seeing the patient within one to two weeks, depending on acuity. It’s not uncommon in many places across the country for a patient to wait six months to get a genetic counseling appointment.”
  • Cost-effectiveness – Telegenetics reduces costs for training, staffing and retaining genetic experts. An outsourced telegenetics model like Genome Medical can provide annual cost savings of $50,000 or more per full patient caseload (similar to what would be handled by an FTE in-house genetic counselor).
  • Convenience – Telegenetics lets individuals access care easily and safely from the comfort of their own homes, and allows health care providers to consult rapidly with genetic experts when needed.

It just makes sense—and never more than right now, when health systems are challenged to re-establish contact with patients who may have put off appointments for genetic care because of pandemic-related safety concerns.

 What does the Genome Medical telehealth delivery look like:

Through its Genome Care DeliveryTM platform, Genome Medical offers comprehensive, end-to-end services to meet the needs of health systems, hospitals, payors, providers and employers nationwide. Our clinical team of genetic specialists includes genetic counselors, medical geneticists, primary care physicians and pharmacists. They have deep expertise across six major clinical areas: cancer, cardiovascular disease, reproductive health, pediatric genetics, pharmacogenomics and proactive health management.

Key elements of their model include:

  • Rapid access – experts typically consult with patients within 24-48 hours—compared with a typical wait time of at least one month, and often even longer, to see a genetic expert in person.  
  • Flexible solutions – They tailor services to the needs of the hospitals, health systems, medical providers and others they serve, whether by providing overflow care, initiating new genetic services or other options. Flexibility is especially important right now, as the health care system navigates the uncertainty, fluctuating patient volumes and other challenges of the pandemic.
  • Education – Provide curated content to both patients and providers to help them understand genetic conditions, testing and potential clinical outcomes. This includes Genome Care Navigator™, an innovative technology that connects patients with an automated, video-based education and informed consent process to boost adoption of recommended genetic testing in reproductive health, cancer and other areas.
  • Online assessment – Offer online tools that help identify individuals at increased risk for a genetic condition.
  • Guidance toward specialty care – Along with recommending appropriate testing, experts can guide patients toward clinically relevant specialty care.
  • Clinical integration – The patient and treating physician receive a personalized clinical action plan, and their experts collaborate to support the appropriate use of genetics and genomics in clinical decision-making.

The above was just one such recent update in the news for Genetic services and we only hear more and more of such services emerging in our industry of patient care.

Genetic services play a critical role in life-saving decisions, such as testing to inform surgical decisions and chemotherapy selection for cancer patients, and determining a diagnosis for patients with rare genetic conditions. It is necessary to continue these services and to move them to virtual care during this pandemic. Not only does this help keep patients safe, it also helps our health systems and hospitals look to move all non-essential services offsite.

Interview with Juliana M.H. Lee, FHGSA – Genetic Counselor

Juliana M.H. Lee

Ms Lee is a genetic counselor certified by Human Genetics Society of Australasia (HGSA) and a registered & licensed counselor with the Malaysian Board of Counselor. As a pioneer genetic counselor in Malaysia, she has taken on various roles that has contributed to the development of genetic counselling practice in Malaysia and across Southeast Asia.  With the experiences gathered over the years, she set-up GCA ( in 2015. Apart from conducting genetic counselling direct to patients, she also consults organisations that require training and support services.


She obtained B.Sc.Hons. in Molecular Biology (Genetics) from the National University of Malaysia. She then furthered her studies in the Graduate Diploma in Genetic Counselling at University of Melbourne in 2003. In 2009, she graduated with Master of Counselling from University Malaya.


  • Ms Lee began practice in 2004 at University Malaya Medical Centre in Kuala Lumpur as a Medical Social Worker (Associate Genetic Counsellor) conducting genetic counselling and support services to families affected with genetic conditions.
  • She worked with Professor Dr Meow-Keong Thong, the first clinical geneticist in Malaysia and has managed cases that ranged from pediatric genetics, inborn error of metabolism, rare diseases, reproductive genetics to hereditary cancer. 
  • In 2014, she joined the private industry as a consultant genetic counsellor to a Singapore company introducing the latest genetic tests in Southeast Asia such as NIPT, expanded carrier testing, cancer panel testing and somatic cancer testing. This role gave rise to opportunities for her to provide training and genetic counselling support across Malaysia, Singapore, Philippines and Vietnam.


  • Throughout her career, she has presented numerous talks and published articles to promote the role of genetic counsellors, highlighting the need to develop a career pathway and to train more genetic counsellors in Malaysia.
  • Apart from lecturing in the Masters of Science (Genetic Counselling) in National University of Malaysia, she is also the Secretary of Genetic Counselling Society Malaysia (GCSM), President of the Professional Society of Genetic Counselors in Asia (PSGCA), Auditor for Asia Pacific Society of Human Genetics (APSHG) and Member of the National Rare Disease Committee, Ministry of Health Malaysia.

Role play part 2 of the interview will be posted later!!

Summary Part 1 of my interview process at University of Technology,Sydney, Australia

As promised I have finally given a brief summary of Pre- prep for Interview and also what my 15 minute zoom interview comprised of with UTS, Sydney.

  • I had received an email confirming being selected to the interview stage and was given the flexibility of choosing my interview date from a list of one or two dates and different times.
  • I choose to go for the first available date as I had waited long for this day and didn’t want to take much time preparing. I knew I was ready and sometimes its important to reflect on self and how well you’ve really prepared, rather than over questioning or doubting yourself. Also the fact was a week apart or few days later date wouldn’t realistically make a huge difference. However, this is my own view after a year long preparation.
  • Also I was confident on selecting the interview date as I had already scheduled for Interview preparation session with Shannon at “The Applicants Utility Guide” (profile on Instagram and Twitter). Shannon as most of you know provides services pertaining to grad application prep and is kind enough to provide extended sessions and flexibility in terms of time commitment as well. I had scheduled for a two hour interview prep with her which we then split into two different sessions.
  • In our first session, Shannon made me practice on speaking about my personal objectives on various aspects of:
  • Why genetic counseling?,
  • What genetic counseling means to me?,
  • discussing on my strengths and weaknesses,
  • doing some scenario based questions
  • reflective writing questions
  • We then scheduled a second session which was just one day before my interview day and was solely to do at least 3 mock interviews each timed for 15 minutes. It was a very formal interview where we role played and did these mock interviews.
  • These two sessions did give me loads and heaps of confidence and peace and helped me reflect on my answers, tone, scope for improvement and on the day of interview I knew i was absolutely ready.
  • Apart from the sessions above, I had also done 12 month prep on building my networking skills with Genetic counselors around, aspiring students and current students. Seeking for resources on Genetic counseling from various sources and platforms but also providing resources that I would become aware of to others in my community of GC.
  • I had spoken to several Genetic counselors and asked all sorts of doubts even the once that probably seemed silly yet it is essential to remember that no one is going to judge you and that it is best to ask your doubts than to let them sprout.

Format of my interview:

  1. Time: The interview would be for 15 minutes.
  2. Interviewers: There were two panel members(faculty of the course) to conduct the interview.
  3. Pattern: They asked me 3 questions. (one scenario and often the trickiest one in all their interviews similar to my last years attempt )
  4. Reflective writing: At the end of the interview, I had to do a reflective writing on a word document covering on a few aspects of the interview and submit it within 20 minutes of finishing the interview.

Hope all the aspiring applicants found this useful and for anyone who would like to do a bit of reflective practice and would like a friend like support from a current student, do reach out to Shannon as she for sure played a huge role in supporting me throughout my application process.

As someone once said: “Sometimes all it takes is to know a perspective from the other side and a friend to show you your best attributes” Don’t be shy or afraid to seek support and help if you feel the need for.

I would love to hear from you all if you would be interested to do a detailed session with me on the Interview process (PART 2) as a whole, covering aspects such as questions i was asked, reflective writing and what its format was like and maybe do a Q& A in the end.

Do send your comments and answers as a YES or NO either here on my blog or on Instagram.

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: Amy Pearn (Perth, WA)

Amy has been providing cancer genetic services to the public since 2005. She has a Masters in Genetic Counselling from the University of Newcastle, Australia, and is a Certified Genetic Counselor with the Human Genetics Society of Australasia (HGSA) and the Canadian Association of Genetic Counselors (CAGC). She has worked in public health, research, laboratory and consultative genetic counselling roles in Canada, Switzerland, New Zealand and Australia. She is a versatile genetic counselor with a specific interest in cancer genetics. 

She runs her private practice: The Gene Council in Perth, WA and majorly provides telehealth genetic counseling (telegenetics) services to patients and clients from across Australia. She goes on to speak on her views and experience as telehealth GC, on cancer genetic counseling and also on her roller-coaster journey to becoming a certified GC in more than one country and ultimately to starting her own practice.

Interview with Amy Pearn, certified Genetic counselor practicing in Perth, Western Australia.