Next Generation Genetic Counselling

12/09/2026

A tiny test can carry a lifetime of impact. Expanding awareness, access, and education around newborn screening means more families can have answers when they matter most—especially in the rare disease community.

12/09/2026

September is Prostate Cancer Awareness Month! Genetic testing can be useful for patients with an active cancer diagnosis, so we're highlighting the current guidelines for prostate cancer.

12/09/2026

Its always a good day when Prof Ambroise comes 'home' to visit! A PhD graduate from HumGen himself, and affiliate Prof in our Division, he is now Professor of Genetic Medicine, and Director of the McKusick-Nathans Institute and Department of Genetic Medicine at Johns Hopkins

03/07/2026

Fragile X syndrome is more than a diagnosis—it affects learning, communication, behavior, and daily life in different ways for every individual. While there is currently no cure, early intervention and supportive therapies can help people with Fragile X syndrome reach their full potential.
By learning about rare conditions like Fragile X syndrome and sharing accurate information, we can help increase understanding, reduce stigma, and support the individuals and families living with it every day.

13/06/2026

“If there were greater emphasis on genetic risk factors, genetic testing, and counseling, I have no doubt in my mind my son’s lifelong, debilitating, complex health conditions could have been prevented.”

Ashley’s story is one of several powerful patient perspectives featured by the National Organization for Rare Disorders, Inc. (NORD).

We are grateful to NORD for elevating the voices of patients and families who know firsthand how access to genetic counseling can change lives. Their stories remind us why expanding access to genetic counseling services is so important.

Read the article at the link in the comments.

09/05/2026

09/05/2026

Reproductive autonomy shapes how patients decide on prenatal screening. New research highlights how genetic counselors approach that responsibility in the context of non-invasive prenatal testing.

Interviews with genetic counselors show a focus on guiding patients through uncertainty. Genetic counselors described this ambiguity as a core part of care rather than a barrier to informed choice.

Read more from the Journal of Genetic Counseling via the link in the comments.

22/04/2026

19/04/2026

Sickle cell disease is a genetic blood disorder that changes the shape of red blood cells, making it harder for oxygen to reach the body’s tissues and organs. This can lead to painful episodes and serious health complications over time.
Because symptoms can begin in early childhood and vary widely from person to person, ongoing care and awareness are important. Learning about sickle cell disease helps support those living with it and highlights the importance of research, treatment advances and equitable access to care.