Kapi‘olani provides comprehensive and compassionate care for the people of Hawaiʻi, including education for medical personnel and the community about the exciting and ever-changing field of medical genetics.

Genetics patients are typically referred by their primary care physician or a specialty doctor. Sometimes, individuals request genetics services because they have a family history of a genetic condition or they hope to explore unanswered questions about a medical condition in themselves and/or their family.

As Hawaiʻi's maternity specialty hospital, Kapiʻolani opened the Fetal Diagnostic Center in 1990. It is the state's first obstetrical center to provide comprehensive diagnostic services for pregnant women. The staff is comprised of Maternal Fetal Medicine Specialists (physicians with specialized training and experience in the care of pregnant women and their fetuses, including high-risk pregnancies), technologists, genetic counselors and clinical nurses, all dedicated to helping women have the healthiest babies possible. Services include:

• Prenatal screening and diagnosis
• Genetic counseling and screening
• Antepartum fetal testing
• Ultrasound
• Consultation, treatment and management
• Information about tests
• Amniocentesis
• Chorionic Villus sampling
• Pregnancy exposure consultation
• Thalassemia
• Gestational diabetes management – Sweeter Choice program

Hawaiʻi Community Genetics is dedicated to caring for individuals of all ages who are affected by birth defects, developmental concerns and genetic conditions. It is a unique collaboration between Kapiʻolani, the State of Hawaiʻi Department of Health and the University of Hawaiʻi John A. Burns School of Medicine.

The clinic provides both inpatient and outpatient consultations, including telemedicine services for neighbor island families. The following specialty clinics are also available through the clinic:

• Hemoglobinopathy Clinic: Specializes in caring for individuals and families who are affected with or carriers for alpha thalassemia, beta thalassemia, sickle cell anemia, glucose-6-phosphate dehydrogenase deficiency, hemoglobin variants, or other inherited anemias.
• Metabolic Genetics Clinic: Provided by a team of specialists, this clinic cares for children and families with known or suspected inborn errors of metabolism. Our state newborn screening screens for 33 disorders, and most of the conditions screened for are metabolic disorders. Early diagnosis and treatment of inborn errors of metabolism may help prevent intellectual disabilities, developmental delays, organ damage, and, in some cases, death.
• Kapi‘olani Cleft and Craniofacial Clinic: Located at Kapiʻolani Medical Center, this clinic provides comprehensive diagnostics and treatments for children born with a cleft lip and/or palate and children born with craniofacial anomalies. Other reasons for children to come to this clinic include a sub-mucous cleft palate, speech concerns (e.g. hyper-nasal speech) and dental concerns related to the above conditions. We provide genetic counseling at this clinic.
• Adult Cancer Risk Assessment Program: The aim of the Cancer Genetics Program is to identify individuals who have inherited an increased risk of cancer, provide accurate risk assessment for these individuals and their family, aid in the appropriate genetic testing, and educate them about available screening and cancer prevention strategies. A physician referral is encouraged. Please call our office for referral details.

Why does it take so long to get an appointment?

Currently, there are too few genetic providers in Hawaiʻi. The providers at Hawaiʻi Community Genetics see patients of all ages at several hospitals and clinics Additionally, genetic consultations can be quite complex and time consuming, so fewer patients can be seen each week compared to other doctors. Therefore, currently our wait time to get an appointment at Hawaiʻi Community Genetics is a few months.

Why was I or a member of my family referred to a genetics clinic?

Patients are usually referred by their primary care physician or a specialty doctor. Sometimes, individuals request our services because they have a family history of a known genetic condition, or they hope to explore unanswered questions about a medical condition in themselves or their family. Some common reasons that people come to a Medical Genetics appointment include:

• Abnormal newborn screening results
• Metabolic disorders
• Birth defects (e.g. cleft lip/palate, congenital heart defects, neural tube defect)
• Abnormal growth
• Intellectual disability or developmental delay
• Blindness or deafness
• Known or suspected chromosomal or genetic condition
• Family history of a known or suspected chromosomal or genetic condition, or birth defect
• Prenatal genetic counseling
• Hereditary cancer syndromes
• Cancer risk assessments

How does someone benefit from an appointment?

One of our main goals is to find the cause of or to provide a genetic diagnosis for an individual’s medical condition, and to offer more information about a genetic diagnosis already made.

Sometimes a diagnosis can be made based on medical and family history along with a physical exam. Sometimes genetic testing is needed (usually blood or saliva tests). Sometimes images/lab work is ordered and other medical specialty referrals are made.

Once a cause or diagnosis is known, we can describe the condition, including expected symptoms and progression, medical management, treatment options, genetic testing for family members, and the chances the condition can occur in other family members and future pregnancies.

We also aim to assist individuals and families in communicating a diagnosis. Genetic conditions are rare and most people outside of the genetic field are not familiar with the condition. We explore ways to communicate genetics information to others, especially family members who may be at risk. If available, we provide written materials and referrals to support groups, other families with the same or similar condition, and local and national service agencies.

Who is a patient seen by during an appointment?

Generally, our patients are seen by a medical doctor with special training in genetics (a board-certified medical geneticist) and/or a genetic counselor (who has a master’s degree in genetic counseling). Sometimes, a dietitian or nurse is part of the visit. The clinic is also a teaching facility so residents and/or medical students may be at an appointment.

What happens during an appointment?

Genetic appointments usually take about an hour; however, there is usually work done by the doctor or genetic counselor before and after the appointment.

Before the appointment: The genetics department usually will call patients and/or the referring doctor before the appointment to:

• Explore concerns and questions.
• Document a patient's medical, family and pregnancy information.
• Obtain and review medical records, including any previous lab testing or imaging done on patient and affected family member(s) as needed.

During the appointment: Geneticist and/or genetic counselor usually evaluates the family together to:

• Address concerns and questions.
• Review the patient's medical, family and pregnancy information.
• Perform a physical exam (if indicated).
• Discuss the diagnosis or possible diagnoses and recommended genetic tests and/or other medical evaluations.

Note: Many genetic tests are sent to mainland laboratories, and the results usually take 3-4 weeks, sometimes longer.

After the appointment: the doctor and/or the genetic counselor will:

• Arrange laboratory testing.
• Summarize the appointment and send this information to the patient, referring provider, and other providers caring for the patient.
• Encourage family to re-contact genetics clinic when considering pregnancy and/or for updated information.
• Be available to answer future questions.

Who needs to be there?

For a child, it is helpful for both parents to come to the appointment along with the child. Other family members are welcome to attend with a patient or, in the case of a minor, with the parent's permission. Spouses/partners are always welcome. Our staff will let you know if other family members should attend, or if it would be helpful to gather information from family members prior to the appointment.

How often do we recommend lab work?

Whether we recommend lab work for a patient depends on what we conclude once we have evaluated a patient. The genetics team lets patients know at the end of the appointment whether genetic tests or other lab tests are recommended. Lab tests are usually performed on blood or urine.

How can a patient or family prepare for an appointment?

• Find out if there are any health problems in immediate or extended family members to help us accurately review family medical history.
• For individuals with developmental concerns or birth defects, it helps if you bring a few photos of the immediate and extended family.
• Prepare a list of questions to ask the genetic counselor and/or geneticist.

Please either call Hawaiʻi Community Genetics or fax your referral form and we will be happy to assist.

Kapi‘olani Fetal Diagnostic Center: 808-983-8559

Please either call Hawaiʻi Community Genetics or fax your referral form and we will be happy to assist.