Twenty years ago, I started my training to become a genetic counselor. I had long been intrigued by the fast-moving world of genetics, and I knew that there would always be something new to learn in my chosen career field. Reflecting on my two decades of experience, I am pleased to say that I was right! I have witnessed unbelievable technological advances and discoveries in the field of genetics. Moreover, the cost of genetic testing has dropped, and families can now access genetic testing and counseling services from the comfort of their own home. This was barely imaginable a mere 10 years ago!
Today, I am a genetic counselor with PWNHealth (PWN). I provide telehealth services to families that have had genetic testing. My goal is to help them better understand and adapt to their results. I have a strong interest in pediatric genetics, and it has been particularly rewarding to see how the developments I mentioned above can help families of children with genetic conditions.
PWN provides clinical oversight for consumer-initiated supplemental newborn screen genetic tests. Parents can request this test to screen their infant or young child for additional genetic conditions that might not be included on their state newborn screen. I had the opportunity to work with a family that received a positive test result for their toddler. At the time of our conversation, the child had no outward symptoms of the condition. The family was unlikely to have learned about the diagnosis until years later, after symptoms had appeared. Early diagnosis meant that the child could get early screening and treatment, possibly avoiding major health problems down the road. This was only possible because the family was interested in and able to directly access this additional genetic testing.
In addition to increased access to genetic testing, PWN also provides families with access to genetic counseling services for tests ordered by their providers. Recently, I spoke with a family of a child with multiple medical concerns. Their physician had ordered an extensive genetic test that identified the underlying cause of the child’s health problems. However, the family did not have timely access to a genetics provider in their area. Through PWN’s telehealth platform, I was able to speak with the family within days of receiving the diagnosis. We reviewed the meaning of the test result, its implication for the future, and a plan for their child. What a difference it made to the family to be able to speak to someone within days instead of months about their child’s diagnosis!
Indeed, the past two decades have seen amazing progress in the field of genetics. Genetic testing and counseling services are more accessible than ever, and I believe that the best is yet to come. As technology and our understanding of the genome advance, we will continue to identify the underlying genetic causes for both rare and common health conditions. However, I am most excited about the promise of genetics in treating those conditions.
Already, genetic testing is increasingly being used to help determine treatment options. I am also hopeful that gene therapy will become the standard of care for many genetic conditions. Research on the benefits and success of gene therapy is well underway, and I look forward to the day when we genetic counselors can speak with families about “curing” these conditions. I am proud to be a part of this important and growing career field, partnering with families to understand, interpret, and benefit from the latest developments in genetics!