During the 10th European Conference on Rare Diseases & Orphan Products, hosted by Eurodis, many people advocated for improved newborn screening panels. In particular, these panels should include more testing for genetic disorders like PKU or leukodystrophies. Ultimately, early detection leads to better patient outcomes and a higher quality of life.

Genetic Disorders: Leukodystrophy, PKU

Leukodystrophy

Leukodystrophy is a broad term describing progressive genetic disorders that impact and damage the central nervous system. Those with leukodystrophy have damage or poor development of the myelin sheath, the protective nerve covering. There are 52 different leukodystrophies, including:

• Adrenoleukodystrophy (ALD)
• 18q syndrome
• Canavan disease
• Refsum disease
• Cerebrotendinous Xanthomatosis (CTX)

Symptom onset occurs in early childhood to adolescence. Symptoms differ based on the specific subset. However, the most common symptom is progressively worsening childhood health. Additionally, patients can develop:

• Bladder issues
• Difficulty with breathing, hearing, speech, vision, and mobility
• Seizures
• Changes in behavior

Learn more about leukodystrophies.

Phenylketonuria (PKU)

Phenylketonuria (PKU) is a rare genetic condition caused by excess phenylalanine accumulating in the body. The body cannot break down or expel this amino acid, causing health problems. Symptom onset is within a few months of birth. Symptoms include:

• Hyperactivity
• Developmental and intellectual delays
• Seizures
• Frequent skin rashes
• Poor bone strength
• Microcephaly

Learn more about PKU.

Conference Discussions

A History of Screening for Genetic Disorders

In the 1960s and 1970s, doctors discovered that PKU could be treated with a low-phenylalanine diet. Thus, the medical field implemented more widespread newborn screenings.

In those days, testing for PKU was as followed:

• Taking a blood sample from a newborn’s heel,
• Sending the blood to the lab, and
• Testing the blood.

Now, the process is somewhat more streamlined: a tandem mass spectrometry test first used in the 1990s. It can test for, and detect, up to 50 separate genetic disorders.

Moving forward, researchers are considering the possibility of genome sequencing for newborn screenings, which could test for up to 884 disorders.

Thoughts from the Conference

During the conference, groups discussed a newborn screening “patient charter” that would more comprehensively test newborns for genetic disorders. According to Nick Meade of Genetic Alliance UK, this is important because:

“A child born with a treatable rare condition…can be identified quickly; appropriate care, support, and treatment can begin as soon as necessary to minimize the impact.”

In short, early detection leads to better, quicker, and more effective treatment. It also allows parents and families to educate themselves on the specific genetic disorder. Finally, screening panels empower parents to make choices on future reproduction.

Currently, screening for genetic disorders in Europe is highly lacking in some areas. It is also inconsistent across multiple countries:

• No screening for genetic disorders: Albania.
• Screening for 1-2 genetic disorders: Moldova, Latvia, Belarus, Croatia, Poland, Romania, Slovenia, Ukraine.
• Newborn Screening for 20+ genetic disorders: Hungary, North Macedonia, Portugal, Spain, Austria, Iceland, Slovakia, Sweden.

The Limitations of Screening for Genetic Disorders

While newborn screening is beneficial, there are some potential limitations. First, parents receiving a false positive may experience severe anxiety. Additionally, this anxiety may spread to those with inconclusive results. Although diagnostic tests are helpful in screening for genetic disorders, they are not always accurate.

Next, these newborn screenings may present an ethical issue. After all, newborns cannot consent to being tested. This begs the question: are parents making the right decision to test for these conditions, or should they wait until their children are older?

Finally, certain genetic disorders come with stigma. This harms the family and the child. Additionally, doctors may over-diagnose certain conditions, either to avoid the stigma of other conditions or if the disorder is on a spectrum.

Find the source article here.