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

REGISTER HERE