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

Interview with a Genetic Counselor : Ms Vaishnavi Suresh, India

I will always remember the examples and technique that Ms Vaishnavi had taught me through this interview.

I would like to extend my gratitude and thanks to Ms Vaishnavi Suresh for being such a great guest and sharing her opinions and experience with us. Do watch out for the end where she discusses on a very interesting and simple technique that she uses as a Genetic Counselor in communicating with her patients.

As not everyone is probably aware of Genetic Counseling in India, I have given a brief introduction about the field in this country along with the courses available. For more information, please visit: http://www.geneticcounselingboardindia.com/

Current Status in India :

Genetic Counseling is largely being provided by General Medical professionals or specialists of other fields like Gynecologists, Pediatricians, Oncologists, etc, who are not trained in Human Genetics or Genetic Counselling. In some institutions Clinicians in DM Genetics (Trained at SGPGI, Lucknow) and in other, Pediatricians with Clinical Genetics post graduation done from International centers carry out Genetic Counselling. While in other centers Msc or MD  with PhD in Genetics provide counselling.

National Institute of Biomedical Genetics (NIBMG), West Bengal and Maharashtra Institute of Health Sciences, Pune have proposed to commence full time genetic Counselling programs in their respective institutes, however these are not currently being offered.

Training Programmes & Certificate Courses in India

There are very few formal planned Genetic Counselling Training programs in India, these include –

  1. Post Graduate Certificate Course in Medical & Genetic Counselling at Kamineni Hospitals, Hyderabad (2007- to date).  Click here for more details
  2. Certificate Course in Genetic Counselling in Manipal Hospitals, Bangalore (2015). Click here for more details
  3. MSc. Biomedical genetics with Genetic counselling, Vellore Institute of Technology(2013-2015). Visit website for more details  www.vit.ac.in
  4. MSc. Genetic counselling, Kasturba Medical College, Manipal (2015). Visit website for more details

Ultra Rapid Genetic testing!!

“Tailor counselling in a way so as not to bombard parents/patients/clients with too much information, but give them the information they need to make decisions”

She beguiled them at her arrival with her charming attractive smile, but little did they knew what was ahead was going to be an unexpected, prolonged period of unanswered questions and pain. Stella was born in 2019 at Royal Children’s Hospital, Melbourne. However, she was immediately identified by one of the genetic doctor as floppier (tending to loosely hang), facial features unremarkable to an untrained eye, but a clear sign of possible genetic condition. Stella’s parents were distressed by the fact that they had not been able to take their baby home and they had barely left the hospital since their daughter was born six days earlier, Ms Ayres said.

Samantha Ayres a Genetic Counsellor, received an email to get immediately to  neonatal intensive care unit (NICU). There was no time to prepare, Ms Ayres an experienced genetic counsellor prepared and learnt as much as she could about Stella’s case while walking to meet the waiting anxious parents.

Stella’s parents had just become participants in a trial for ultra rapid genomic testing (less than 5 day turn around) available at NICU for infants with a genetic condition and is only available at a handful centres worldwide. Instead of waiting for months, the trial – part of the Australian Genomics Acute Care study – enables families to get their results back within a week. This is specially available for cases such as a rare disease which has not been identified, or has been recently identified.

RARE DISEASE

Rare Disease has been identified by the Global Alliance for Genomics and Health as one of two key areas where a collaborative data-sharing approach has the most immediate potential to directly benefit patients.The Australian Genomics Flagship model is designed to drive this research into nationwide implementation of genomic testing, integrating with their four research programs as frameworks for translation.Each Flagship project is underpinned by strong existing national and international clinical, diagnostic and research partnerships.The partnerships are supporting a ‘virtuous cycle’ of rapid translation and implementation through the exchange of information between clinicians and researchers to evaluate pathogenicity, gene discovery and the development of innovative diagnostic and treatment tools.

“If we had met Stella the previous year we wouldn’t have found a diagnosis for her” – Samantha Ayres

Acute care Genomics study was established only in 2018 to implement and evaluate a comprehensive multi-centre network for ultra-rapid genomic diagnosis in the Australian healthcare system. Stella’s family were enrolled into this study. Families are guided through the process by genetic counsellors like Ms Ayers. Having access to rapid genetic testing could give anxious families the answers they need. It may also give them the answers they dread, or no answers at all. But the chance of getting a definitive diagnosis fast can save a child’s life, guide their treatment, avoid more invasive testing or, tragically, plan their palliative care.

Role of a Genetic Counsellor:

Samantha Ayres is the lead author of a research paper exploring the effects of ultra-rapid genetic testing delivered in NICUs.

For those who learn their child has a terminal condition, rapid testing can cut short a long and traumatic search for a diagnosis. – Genetic counsellors are a critical component to the trial: unpicking complex science and medical histories all within the unpredictable environment of a NICU.

  • They walk families through the process of deciding whether to undergo testing, learning the results in the ensuing days, weeks and months.
  • Do the results have implications for their extended family? What are the chances the couple could have another baby with the same mutation?
  • How will their genetic information be stored and their privacy protected?
  • It’s challenging and often heart-wrenching ground to cover for vulnerable parents.

Stella’s parents were attentive as Ms Ayres explained how trio whole-exome sequencing worked: that Stella and her parents would both be tested for genetic anomalies.

“Sometimes we find there are treatment implications and for those families a diagnosis is really, really important,”

“I always try to get families to imagine what it would be like if we did find an answer, and if we didn’t,” Ms Ayres said.

“I didn’t want to take away their hope but I wanted them to be aware that this type of testing doesn’t always find answers for every family.”

In a family room a few metres from Stella’s NICU bed, Ms Ayres and the treating team told her parents that their daughter had an ultra-rare genetic condition that had only been described in scientific literature eight months earlier. It is so rare that naming the illness would identify her. In the first eight months, 23 families of babies in NICUs have taken part in the trial. Of these, 13 received diagnoses (57 per cent), Stella was one of those infants. Stella would need additional support throughout her life.

Ms Ayres described how Stella’s parents where hanging on every word she and her fellow genetic counsellors said (from Australian Genomics Health Alliance, Murdoch Children’s Research Institute and the Victorian Genetic Clinical Services).

Ms Ayres described how Stella’s parents where hanging on every word she and her fellow genetic counsellors said (from Australian Genomics Health Alliance, Murdoch Children’s Research Institute and the Victorian Genetic Clinical Services). She also described how she witnessed a relief of having a definitive diagnosis tinged with shock when they learned that there was a chance that any other children they conceived could have the same genetic mutation.

“My priority was to give them as much information as they felt they needed,” she said. The diagnosis meant Stella was spared other invasive tests and her parents could take her home.

“This is the case that demonstrated to me how the testing could really benefit families,” Ms Ayres said. The tests – which are free to families in the Acute Care Study – can cost upwards of $10,000 and are not appropriate for the vast majority of babies in NICUs. So far roughly 30 families have been recruited in Sydney and roughly 50 per cent have received a diagnosis.

Kirsten Boggs, a genetic counsellor with the Alliance and Sydney Children’s Hospital Network said the trial was a radical departure from the way genetic counsellors were used to working. They usually have time to get across the case and medical records, build a thorough family history and speak with the family on the phone before an in-depth face-to-face meeting in a therapeutic environment. Then there are the months they wait before the test results come back.

But the value of being able to give patients the chance of getting answers fast could not be underestimated, Ms Boggs said. “It’s a balancing act,” she said.

This paper uses illustrative cases as the basis to describe and discuss the emerging role of genetic counselors in NICU multidisciplinary care teams and the challenges and considerations which arise when facilitating ultra‐rapid genomic diagnoses in acutely unwell neonates. Counseling issues discussed include providing pre‐ and posttest counseling in the medicalized NICU setting, facilitating informed decision‐making at a time of acute distress for families, and special considerations around the possibility of ultra‐rare diagnoses in neonates at the beginning of their diagnostic trajectory.”

As indicated by Samantha Ayres and her colleagues, there needs to be a counselling interface between lab report and patient, especially in a charged environment where news may not always be good.

I had a few key takeaways from this article and with this I would like to let all students like me know that as important we think shadowing is and as we all are in this boat of COVID19 trying our best for opportunities, I personally feel reading good articles and following the work of genetic counselors virtually, like the above also teaches you skills that a genetic counselor uses on field. COVID19 has indeed been a positive change in many ways as it has surprisingly connected me to a whole new world of people like you and made me realize that learning can be done in many alternate ways, its only a matter of pushing yourself beyond your comfort zone and looking for knowledge at places where you in normal times wouldn’t.

Stay tuned for my next interview with a Genetic counselor from India where she taught me a simple technique that I am definitely looking forward to use on filed when i become a Genetic Counselor!!!

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 !!

Not Parent Expected !!

As described by many Genetic Counselors, the primary focus of Genetic counseling is patient experience and care supported by providing knowledge related to their genes. Today’s story is inspired by one such narrator who comes to know she is now classified as an NPE (Not Parent Expected).

Genetic testing and emotions surrounding this decision can be quiet complex and nerve-racking. This is Maggie’s story (owner of “The Mindful NPE”) who received a lovely and thoughtful gift of “Ancestry Genetic testing” from her adult children’s for herself and their father on Mothers day and Fathers day. Maggie and her children’s father do not live together, however Maggie had very well expected that her children’s dad is Ashkenazi Jewish. She was also confident before the test that she would be a 90 percent Irish and 10 percent English type of results. Although she was excited for the test and was looking at doing it as a fun activity, she wasn’t aware of what was to come next in her life!!

With a day or so passed and while Maggie was waiting at a restaurant for lunch with her children’s father, she received the results over the phone probably in an email/text and it was revealed very surprisingly and shockingly against her expectations that she now identifies as a 50 percent Ashkenazi Jewish and so termed as Not Parent Expected. This wasn’t what she had expected in her wild dreams although she knew she had once told her then husband of how she think she has traits of a Jewish (though this was said as a fun conversation). She immediately went to he washroom as she couldn’t believe what she had just read and needed a moment to take it all in. She also said how she has always been a curious for information sought of person and so she immediately rang the clinic (23andme) to know her detailed report of testing. What stood out next was that she shared 1301 centimorgans in common with a person’s name that she doesn’t recognize and never heard of. She had only expected to see her Mom, her close siblings and her fathers side family, this was all there along with that one unidentified and mysterious name. She then immediately decided to get in contact with this mysterious person through ancestry and surprisingly he connected and was as equally surprised as her and said he did not knew her either. What is beautiful to see here is how they strangely connected and then discussed over to discover their family history. She described her interaction with this man as a warm and lovely meeting.

Apparently his grandfather is her biological father and this family of his were dear friends of her family. Her mother worked for him for 31 years.

How would have Maggie felt learning about her biological father? how many questions would have this revelation raised in her mind??

This could be a family member, close sibling, a partner, children, parents or any loved ones.

In her words she felt really “untethered, ungrounded and as if she was floating. Its been 6 months since she got to know and she realizes how much of our identity is linked to our memories. She was raised by a loving mother and father and she has got to know that this man was also very loving. She had many questions and doubts in her thoughts of why didn’t she knew, why no one knew. She explained how she initially felt that knowing this was neither exactly good nor felt that bad. She found it difficult to hold this reality in herself and decided to began telling people about it. This didn’t work as expected and she described how even though everyone showed sympathy and support she could sense they weren’t really comfortable. She then planned on making everyone aware that she is now going to reveal something deep, important and sensitive to discuss and that they please just not say anything and only listen.

Now, all of her biological father’s offspring know and her family knows. She goes on to express how she feels “it is a great relief” to know and she made up her own kind of story to come in feeling better with this new part of her life. She also found it very fascinating to see her father and biological father both in her wedding album photographs. She wondered if they knew each other and if they knew about this entire story and she said to herself that if they did, she was even more proud of her father who looked after her with love and care always.

What NPE means to her?

An event designation eventually used by Genetic counselors to explain unexpected break or outcome of paternity, actually called Non- Paternal event. It really affects cases such as adoption or when a new born gets mixed at hospital.

Within 24 hours quiet quickly she also found out a huge support community, she says a secret Facebook group dedicated specifically to such NPE cases and several people who have experienced similar outcome.

Interlink between Ashkenazi Jewish and BRCA gene mutation:

As she went on to do further research on this discovery, she learnt that her biological fathers sisters died at young age and she wanted to know why and she couldn’t find this from the family whom she did approach. She then found some research studies from before and perhaps started by someone who probably uncovered BRCA gene mutations and its commonness in Ashkenazi people. She also had a suspicion that maybe one of her aunt had died of breast cancer. Meanwhile information came to light that 80 percentmwith BRCA gene mutation would have breast cancer and the risk is 10 times more in Ashkenazi people. She then decided to get herself tested and enroll in studies and recollects how the process was very long and asked repeated questions. She was eligible for the study as she was 50% Ashkenazi and this was a pilot study from 2017.

Her test results did not have any BRCA mutations and she feels lucky that she got to know the results as this not only means she is not carrier but is good to know for her children of whom her daughter is 24 yr old and is good info as now even her children are 75 percent Ashkenazi Jewish and also eligible for the study.

New identity:

Knowing her now new identity has made her feel like a warm uncovering and she does feel she resembles a Jewish in many of her acts and beliefs. She says “it feels like an honor”.

Her advise to people who recently found out they are NPE.

People who take these tests she hopes that more control is put around aspects of making them understand the possibilities and implications of ancestry testing so before they get the results they have both their feet on ground and are prepared for the unexpected or traumatic results. And once they find out they are NPE, to not discount of those feelings and go look for support groups and the secret Facebook group where they can find immense support and guidance to talk to and maybe also see a therapist who understands ancestry testing and its implications.

With this beautiful and roller coaster experience and story of Maggie’s now reality, I would like to comment on the aspect of how important it is to know as a genetic counselor, the mind frame and strong expectations that our clients/patients come with and how they might not really be expecting any major surprises. Right education and socio-psychological aspect of preparing them before the test is very crucial and also supporting them throughout the journey of this revelation.

I would like to thank Patient Stories and Grey genetics for the inspiration behind writing on Maggie’s journey and would also like to thank The Mindful NPE for sharing her beautiful experience with our community.

Until next, I Disha signing off!! stay tuned for an exciting little project of mine where you will be hearing from guests far away and all around.

Genetic counselor delivering unexpected results to a patient/ client

This is a role play between a GC and a client, I would prefer saying client as in this particlua scenario the visitor is not yet confirmed as a patient. this video very specifically shows the expressions and emotions of the client and how the genetic counselors observes these signs and approaches the conversation!!

Write your thoughts in comments. Do you think a person who visits a GC should be called patient or client. Is it situational basis!!

History of Genetic Counseling

Did we ever ask ourselves these questions??

Where did the idea of current curriculum for genetic counseling come from? What were the basis of deciding what is going to be a crucial part of Genetic Counseling education and profession?

Lets go get some answers!!!

Look at the evolution of term “Genetic Counseling”. It was first used by scientist Sheldon Reed in 1947. This was six years before the structure of DNA was discovered. The first half of 20th century had seen the Eugenics movement.

What is the relation between Eugenics and Genetic Counseling ?

The practice of advising people about inherited traits began around the turn of the 20th century, shortly after William Bateson suggested that the new medical and biological study of heredity be called “genetics. Heredity became intertwined with social reforms when the field of modern eugenics took form. Eugenics was based on the belief that some groups of people are born better than others . This belief was used by govts in terrible ways. The most infamous example of eugenics is Holocaust. However other countries (including the UK and the USA) had policies based on Eugenics. This trend indirectly had its influence on genetics as reproduction was the main focus in early years.

Who opposed eugenics from influencing Medical Genetics ?

Sheldon ReedHe didn’t want medical Genetics to be based on eugenics. He along with others, wanted genetics to be patient -centered. This means he wanted it to focus on the psychological well being of families. Reed’s concept of Genetic Counseling focused on empowering families. He wanted to do this by providing them with accurate information. As such the term “Genetic Counseling” was designed to deliberately distance Genetics from eugenics. Reed felt that patient encounters could be described as a “Kind of Genetics social work without eugenic connotation”.

1940’s-60’s

Medical Genetics became a more established Field of medicine. People like Sheldon Reed had tried to distance Genetics from its eugenics past. However Genetic Counseling took some time to become established. It was not until 1969 that Genetic Counseling was established in the USA, at the Sarah Lawrence College.

The 70’s and 80’s

In 1970’s and 1980’s further genetic counseling programs emerged. First in the USA and later in other countries such as the UK, Canada, Australia and South Africa. At this time genetics was mostly involved in reproductive medicine. Genetic counseling training was designed to promote patient choice. An early principle of genetic counseling was “non-directiveness”. This meant that genetic counselors tried to avoid telling patients what they should do.

Introduction of Carl Rogers

Genetic counselors also used the work of Carl Rogers, a “Psychotherapist”. His work emphasized empathy and something called “Unconditional positive regard”. This is the idea that you accept and support people, even if they say things you might find unacceptable. His work also gives importance on congruence (unity/consistency) or being genuine. He emphasized that therapists use these skills to remain non-judgmental towards people seeking therapy. The three key aspects of his work were Empathy, Unconditional Positive Regard and Congruence (being genuine). Developing these skills remain of importance even today in genetic counseling training.

Seymour Kessler

Early Genetic counselors were also influenced by Kessler’s work, a pioneer of the profession. Often Genetic counselors have written and expressed views on conceptualizing genetic counseling as a highly circumscribed form of psychotherapy in which effective communication of genetic information is a central therapeutic goal. While such an approach is by no means new—in 1979 Seymour Kessler explicitly described genetic counseling as a “kind of psychotherapeutic encounter,” an “interaction with a psychotherapeutic potential”. He also highlighted how the traditional approach of a doctor/patient should be minimized and how this enables people to be empowered and to make choices that they feel right for them.

The 90’s, the development and the beginning of the Genomic Era

Non- Directiveness:

Haven’t we heard this term from every shadowing experience, every GC we have spoken with, or on every seminar/webinar that we would have attended. Yet, this is the much debated key concept of genetic counseling profession. If you look at the simple meaning of this term it stands for autonomy, reproductive rights, informed consent and independent decision making. There are ongoing debates on how appropriate this terminology fits in for genetic counseling practice in the 21st generation. As such this era comes with opening doors to new diseases, genetic disorders and complexities. But it also is the era of more acceptance, more independence and individual choices. This is why a few genetic counselors argue that in particular scenarios such as cancer screening based on evidence which can save lives, recommendations/opinion need to be more firm. A few believe in non-directiveness as an important tool of practice.

This was also the era of new developments in molecular genetic techniques for studying genes which meant expansion of genetic counseling in new areas. Wherever genetic testing was possible meant that it needed genetic counselors. Previously cancer testing was only family history based, then it shifts towards discovery of BRCA1 and BRCA2 which lead to increased risk of breast and ovarian cancer and it was then actually possible to tests cancer susceptible genes. This concept of genetic counseling for cancer predisposition syndromes is now a significant part of workload for many genetic counselors. This 90’s expansion and learning to acquire new skills and competencies continued to 21st generation – The current era.

Genomic Era:

This refers to being able to provide genetic testing for multiple genes in a single test which gives the power of diagnosing rare diseases to treat and prevent cancer and develop treatment for common diseases such as cardiovascular. However, knowing more comes with its disadvantage and current biggest challenge of dealing with Unexpected outcome, delivering surprising/difficult news and uncertain outcome.

Here’s where my next post will come in picture where I will be discussing on a patient podcast of unexpected outcome and its impact on life. What are the pros and cons? What was the patients expectations/feelings before the counseling and after counseling. Did it make major impact on decisions or lifestyle of life. What will be the next steps they plan to take or what are their future plans with now knowing the outcome.

Hope you all find this read useful and insightful. As always please pass on any feedback/comments and your views on the era of genetic counseling and where it’s progressing.

ABOUT ME

Hello everyone! I hope you are well! This is my very first post for my very first blog. This post is a version of my personal statement and it will give you a picture of my background, my previous attributes, and how jumped onboard my dreamboat of becoming a genetic counselor.
Those of you who follow me on my Instagram account (@aspiringc2020)would know that I am an aspiring genetic
counselor aiming to be matched into one of the only two graduate programs available for genetic counselling in Australia. This can seem quite surprising to many of my fellow friends from the US and the UK where there are numerous graduate programs at various universities
and college setups.


A peak into my background:


I am a girl of Indian origin who lived in India for the first 23 years of my
life! The first time I ever travelled alone in my life was on my longest flight journey to the UK to pursue my Masters in Applied Biosciences at Anglia Ruskin University, Cambridge.
It was always my dream to be a researcher or a scientist and this led me
to do a bachelor’s in Biotechnology and further pursue my masters in the
UK. However, while doing these programs I gradually realized that laboratory work was not the right fit for me. And as I had also worked for years in Customer Service and job roles that need people interaction, I
figured out that the perfect dream job for me would be a combination of
genetics or healthcare and client or patient communication. This would
give me the privilege to constantly communicate with people, help
patients identify their genetic conditions and in turn, empower them to make better decisions.

It was not until 2018 that I learned about Genetic Counseling as a profession from the internet. That is the point where my journey to prepare for Genetic counseling began!!
From then on, there was no looking back! Meanwhile I got married and moved again (this time not alone… 😊) to a new country: Australia.!!! Yay Aussie Aussie Aussie…I am in love with this place!
Unlike other countries, there is a small network of genetic counselors
here in Australia with only two universities providing a graduate
program which is the University of Melbourne, fully accredited by
HGSA board and the University of Technology, Sydney which is yet
to be fully accredited. Hence, I had a very short list of programs to apply for. Though this might seem like a plus point, it does come with consequences of lesser chances of being selected if you’re applying for the very first time.
The healthcare regulations here restrict non-students from shadowing or
working as assistant with a genetic counselor. It is also not easy to apply
for a role in any healthcare setup.
However, there are NGO setups and volunteering opportunities in
organizations such as Very special kids, rare disease voice, Alzheimer’s, dementia, aged care facility and so on. One of the most talked about volunteering opportunity which makes a direct impact in personal learning and also on application is Lifeline support, although
this is a paid volunteering. This means you would need to pay to get trained and intern as a lifeline supporter.
That’s all folks! I look forward to posting interesting articles and taking tiny steps in my journey towards becoming a Genetic counselor.
I also look forward to sharing the measures I took to gain
experience, knowledge, the hurdles I faced along, and how
overcame them. I hope this post will inspire all aspiring students and

give all the information they need. I hope to motivate all of you as we
together count-down to MATCH DAY!!!