The Penn State Health Children’s Hospital Approach to Pediatric Genetics

Our team works to evaluate, diagnose, and manage individuals from birth to adulthood who are suspected of having a genetic cause for their health problems or developmental issues or who have a known genetic condition in their family.

Team Approach to Care

Our expert team is made up of specialists who help to diagnose and manage genetic conditions. The goals of a clinical genetics evaluation are to identify, confirm, or rule out a genetic condition, and to provide support and information for individuals and their families who receive a diagnosis. The team members you meet at your appointment will depend on your reason for referral and may include:

• A board certified clinical geneticist – a physician who has received special training in diagnosing and managing genetic conditions
• A board certified genetic counselor – a licensed, certified healthcare professional trained in genetics and counseling who provides information about inheritance, genetic disorders, genetic testing, and genetic results
• A certified registered nurse practitioner (CRNP) – may be involved in initial or follow-up appointments
• A registered nurse case manager – may assist with coordinating care, providing support and resources
• A registered dietitian – may provide nutritional support and recommendations if this is part of the medical management of a condition

Patient-centered Care

Clinical or medical genetics teams work together to diagnose, treat, and educate patients and families about genetic and inherited conditions. Genetic changes that can occur may lead to differences in body structure, brain development or body chemistry that affect health, development or functioning.

We care for individuals across all ages from birth to adulthood. We strive to provide family-centered care for genetic conditions and provide diagnostic services and referrals as the condition warrants.

Services

• Evaluation and diagnosis for patients with known or suspected genetic conditions
• Genetic counseling for patients and their families with a genetic condition or who may be at risk
• Treatment and surveillance for inborn errors of metabolism and other genetic conditions and syndromes

Why Choose Penn State Health Children’s Hospital for Clinical Genetics

Penn State Health Children’s Hospital provides only the best for your child. We are committed to providing the highest-quality evaluation, diagnostic plan, treatment and support, focusing on the unique needs of your child – both physical and emotional.

The mission of the Genetics Division is to provide exceptional comprehensive clinical diagnostic services, medical management, genetic counseling, and resources information to our patients and families. Our care will be based on a foundation of up to date knowledge and compassionate healthcare.

Nationally Recognized Care

Penn State Health Children’s Hospital is routinely ranked among the best children’s hospitals in the nation due to our focus on patient care, safety and research.

Conditions Evaluated

Penn State Health Children's Hospital Genetic specialists provide care for many issues including:

• Congenital anomalies or birth defects (physical differences present at birth and causing a health problem)
• Chromosomal disorders (such as Down syndrome, Trisomy 18, sex chromosome differences)
• Genetic syndromes (such as Deletion 22q11.2, Williams syndrome, Noonan Syndrome, Neurofibromatosis)
• Conditions that can cause disabilities (such as blindness, deafness)
• Inborn errors of metabolism or metabolic disorders (such as  PKU/ phenylketonuria, Pompe disease)
• Familial or hereditary problems (such as congenital heart disease)
• Short or tall stature (height that is significantly below or above normal range)
• Overgrowth disorders (such as Beckwith-Wiedemann, Simpson-Golabi-Behmel)
• Connective tissue conditions (such as Ehlers Danlos syndrome, Marfan Syndrome)
• Developmental delay or intellectual disability and autism
• Pediatric genetic cancer conditions

Over the 40 years since our division’s inception, genetic testing has changed greatly from routine chromosome studies, to single gene testing, to detailed chromosomal microarray studies, to gene panels, to whole exome sequencing.  If it has been more than a few years since your/your family member’s last genetic testing, consider contacting us to discuss a reevaluation.

Support Groups

Support groups provide children and their families an opportunity to connect with others in similar situations. Learn more about the support groups offered at Penn State Health Children’s Hospital.

View All Support Groups

Genetic disorder resources for patients and families

If you or your child is diagnosed with a genetic disorder, we will help you understand your condition and where to go from here. You may also find the following resources helpful:

• Chromosome Disorder Outreach - information and support for families and people with rare chromosome disorders
• Genetic Alliance - network of over 1,000 advocacy organizations, universities, public agencies and private companies committed to transforming health through genetics
• Gene Reviews - technical information about genetic disorders with support group information
• March of Dimes - information on pregnancy, birth defects and genetic disorders
• National Organization for Rare Disorders - patient advocacy organization dedicated to individuals with rare diseases
• National Society of Genetic Counselors - The National Society of Genetic Counselors advances the various roles of genetic counselors in health care by fostering education, research, and public policy to ensure the availability of quality genetic services.
• OMIM Human Genetics Knowledge for the World - technical information about genetic disorders
• Parent to Parent of Pennsylvania - is a one-to-one model between an experienced, mentor parent, called a peer support and a parent seeking individualized support from another parent who has been there.
• Penn State Cancer Genetics Program - individuals with information and guidelines to provide individuals information based on their family history and/or genetic test results that will help in the prevention and early detection of cancer.
• Penn State Health Children's Hospital Hematology and Oncology - Penn State Health Children’s Hospital Hematology/Oncology program has provided compassionate, expert hematology and oncology care to infants, children and adolescents throughout central Pennsylvania for more than 25 years.
• Rare Chromosome Disorder Support Group - information and support to families and individuals with rare chromosome disorders
• What is Genetic Testing - tools and resources for patients and families
• Woodbine House - special needs publishing company that produces books on Down syndrome, autism, deafness, intellectual disabilities and more

What’s new in genetics?

There have been many recent advancements in genetic testing. Scientists have invented new testing methods that can identify genetic disorders that old testing did not detect.

Microarray testing

One of main advancements in genetics is microarray testing. It can detect DNA changes that can’t be seen by looking at chromosomes under a microscope (called karyotype or chromosomal analysis).

Microarray testing is the new standard, especially when testing for developmental delays or intellectual disabilities, autism spectrum disorder and multiple congenital (present at birth) problems. 

If you or your child was tested before 2005 with routine testing (karyotype analysis) that did not reveal a diagnosis, contact us. You may want to have microarray testing.

Whole exome sequencing (WES)

WES may be able to detect a genetic disorder that was not found with chromosomal microarray (CMA) testing. WES is able to identify “spelling changes” in DNA at the gene level that can help diagnose genetic disorders.

If you or your child were tested before 2014, contact us to discuss whole exome sequencing (WES).

Genetic counselors in Pennsylvania must be licensed

Professional license can ensure that patients and consumers are protected from unqualified providers and can feel confident that they are receiving quality genetic counseling services from reliable professionals.