Genetics

Service available at   Kapiolani Pali Momi Straub Wilcox

Some genetic conditions are inherited or passed down in families. Others are caused by chance. It is also possible to have genes that put you at higher risk for a genetic condition.

Our experts provide support, education and counseling to help you understand genes, genetic testing, and what they mean for you and your family.

Programs & Services available at:


Kapiolani 808 373 7555

Kapiolani provides comprehensive and compassionate care for the people of Hawaii, including education for medical personnel and the community about the exciting and ever-changing field of medical genetics.

Genetics patients are usually 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 their family. 


Fetal Diagnostic Center & Genetic Counseling

As Hawaii's maternity specialty hospital, Kapiolani 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

Kapiolani Fetal Diagnostic Center: 1-808-983-8559


Cancer Genetics Program

The purpose of the Cancer Genetics Program is to identify individuals who have inherited a high risk of cancer, provide accurate risk assessment for these individuals and their families, facilitate appropriate genetic testing, and educate them about available screening and cancer prevention strategies.

Your physician can refer you to the Cancer Genetics Program to:

  • Obtain cancer risk assessment for adults with hereditary cancers based on personal and family history
  • Discuss cancer screening and management recommendations for high risk individuals
  • Coordinate appropriate genetic testing for hereditary cancers
  • Discuss cancer risks and screening for family members

Hawaii Pacific Health Cancer Genetics Referral Form (PDF)


Hawaii Community Genetics

Hawaii 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 Kapiolani, the State of Hawaii Department of Health and the University of Hawaii John A. Burns School of Medicine. 

The clinic provides both inpatient and outpatient consultations, including one outreach clinic a month to a neighbor island and 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.
  • Kulana Malama Outreach Clinic: Inpatient genetics consultations for residents of Kulana Malama. We team up with the nursing home’s medical staff to provide diagnosis and management for medically fragile children.
  • 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 screens for 32 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.
  • Kapiolani Cleft and Craniofacial Clinic: Located at Kapiolani 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. Click to learn more.
  • Adult Cancer Risk Assessment ProgramThe 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.
  • Fetal Alcohol Spectrum Disorder (FASD) Diagnostic Clinic: This clinic is designed to evaluate infants, children, adolescents, and adults who are suspected of having Fetal Alcohol syndrome or a related condition. Fetal Alcohol Syndrome may be considered when there is a history of maternal alcohol use during pregnancy associated with short stature, poor weight gain, small head size, delays in development and/or behavioral concerns. Fetal Alcohol Syndrome can be diagnosed in some individuals who have characteristic features even if the history of maternal alcohol use is unknown. Patients may be self/family-referred or referred by school or a social service agency, but referral from the primary physician is encouraged and may be necessary for insurance coverage. Please see FASD Screening Guidelines and specific FASD Diagnostic Clinic Referral forms below.

For appointments, call Hawaii Community Genetics at 1-808-373-7555 or fax your referral form to 1-808-373-7555.

Hawaii Community Genetics Referral Form (PDF)


Hawaii Community Genetics FAQ

Frequently Asked Questions
 
Why does it take so long to get an appointment?
Currently, there are too few genetic doctors in Hawaii. The doctors at Hawaii Community Genetics see patients of all ages at several hospitals and clinics. As part of this, they travel to the neighbor islands to see patients. Also, Dr. Seaver teaches at the local medical school and at hospitals in the community. Finally, genetic consults can be quite complex and time consuming, so fewer patients can be seen each week compared to other doctors.

Why was I or a member of my family referred to 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 genetic condition or they hope to explore unanswered questions about a medical condition in their family. Some common reasons that people come to genetics clinic 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 
  • Adult genetic concerns 
  • 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 diagnosis for an individual’s medical condition, and to offer more information about a diagnosis already made.

Sometimes a diagnosis can be made based on the medical and family history and a physical exam. Sometimes genetic testing is needed (usually blood and/or urine tests). Sometimes images are ordered or 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 geneticist) and 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: Genetic counselors usually 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 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 doctor, and other doctors caring for the patient. 
  • Encourage family to re-contact genetics clinic when considering pregnancy 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's or, in the case of a minor, with the parent's permission. Spouses 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 or other tests are recommended. Lab tests are usually performed on blood or urine and not usually done on the day of the appointment.

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 geneticist.

How To Make An Appointment
Please either call Hawaii Community Genetics at (808) 373-7555 or fax your referral form to (808) 373-7599 and we will be happy to assist. 

 

Pali Momi 808 973 3403

Cancer Genetics Program

The purpose of the Cancer Genetics Program is to identify individuals who have inherited a high risk of cancer, provide accurate risk assessment for these individuals and their families, facilitate appropriate genetic testing, and educate them about available screening and cancer prevention strategies.

Your physician can refer you to the Cancer Genetics Program to:

  • Obtain cancer risk assessment for adults with hereditary cancers based on personal and family history
  • Discuss cancer screening and management recommendations for high risk individuals
  • Coordinate appropriate genetic testing for hereditary cancers
  • Discuss cancer risks and screening for family members

Cancer Genetics Program, call: 1-808-973-3403 or 1-808-535-7000

Fax the Cancer Genetics Program Referral Form to: 1-808-983-6096

Hawaii Pacific Health Cancer Genetics Referral Form (PDF)

Straub 808 973 3403

Cancer Genetics Program

The purpose of the Cancer Genetics Program is to identify individuals who have inherited a high risk of cancer, provide accurate risk assessment for these individuals and their families, facilitate appropriate genetic testing, and educate them about available screening and cancer prevention strategies.

Your physician can refer you to the Cancer Genetics Program to:

  • Obtain cancer risk assessment for adults with hereditary cancers based on personal and family history
  • Discuss cancer screening and management recommendations for high risk individuals
  • Coordinate appropriate genetic testing for hereditary cancers
  • Discuss cancer risks and screening for family members

Cancer Genetics Program, call: 1-808-973-3403

Fax the Cancer Genetics Program Referral Form to: 1-808-983-6096

Hawaii Pacific Health Cancer Genetics Referral Form (PDF)

Wilcox 808 245 1030

Cancer Genetics Program

The purpose of the Cancer Genetics Program is to identify individuals who have inherited a high risk of cancer, provide accurate risk assessment for these individuals and their families, facilitate appropriate genetic testing, and educate them about available screening and cancer prevention strategies.

Your physician can refer you to the Cancer Genetics Program to:

  • Obtain cancer risk assessment for adults with hereditary cancers based on personal and family history
  • Discuss cancer screening and management recommendations for high risk individuals
  • Coordinate appropriate genetic testing for hereditary cancers
  • Discuss cancer risks and screening for family members

Cancer Genetics Program, call: 1-808-973-3403 or 1-808-535-7000 (Oahu) or 1-808-245-1030 (Kauai)

Fax the Cancer Genetics Program Referral Form to: 1-808-983-6096 (Oahu) or 1-808-246-2914 (Kauai)

Hawaii Pacific Health Cancer Genetics Referral Form (PDF)

Local Resources

Below are local resources for children and families affected by genetic conditions.

The Hawaii State Genetics Program also has a comprehensive listing of links related to genetics.


Genetics & Cancer

What is hereditary cancer?
Most individuals have at least one family member who has been diagnosed with cancer. This is not unusual since about one in three individuals will develop cancer in their lifetime.

Hereditary cancers account for about 5-10% of all cancers. A hereditary cancer is one that "runs in families" and may be passed on from parents to children.

Cancer is more likely to be hereditary if:

  • You have a personal history of cancer
  • Two or more blood relatives have the same type of cancer
  • Cancer was diagnosed when the blood relative was 50 years of age or younger
  • A blood relative has a rare cancer, like male breast cancer
  • Cancer develops in both breasts, both ovaries, both kidneys, both eyes, etc.
  • A single blood relative has had cancer more than once

What can a person do about being at risk for hereditary cancer?
The goal of identifying individuals at risk for hereditary cancer is early cancer detection and prevention. Kapiolani's Cancer Risk Assessment Program assesses an individual's risk through genetic counseling. During a genetic counseling session you can expect to review a detailed history of your personal medical and family history.

Are you at risk for cancer?
If you answer "YES" to any of the questions below, you may want additional information. To discuss your history or to schedule an appointment, please contact us.

  • Have you been diagnosed with breast cancer prior to age 50?
  • Have you been diagnosed with ovarian cancer at any age?
  • Have you been diagnosed with colon cancer prior to age 50?
  • Have you been diagnosed with endometrial cancer prior to age 50?
  • Have you been diagnosed with melanoma?
  • Was your mother or sister diagnosed with breast cancer prior to age 50 or with ovarian cancer at any age?
  • Do you (both sides of family) have cousins, aunts, uncles, or other close relatives with breast, ovarian, colon, or skin cancer?
  • Are you of Ashkenazi Jewish ancestry?

Facts about Hereditary Cancers

  • 10% of all cancers are inherited
  • 7-10% of breast cancer is inherited
  • 10% of colon cancer is inherited
  • 84% of inherited breast and ovarian cancer is due to BRCA1 or BRCA2 genes
  • Breast cancer in a male is a high-risk factor
  • Age of onset of cancer is more significant than the number of individuals with cancer
  • 50% of cancer is inherited through a father
  • Recurrence risks and treatment options may vary depending on the results of a genetic test