Genetics Program

Genetic Counseling

Birth Defects and Genetics Program

Familial Cancer Clinic

Genetic Counseling

Genetic counseling provides information and support to individuals and families with genetic conditions or birth defects, or to individuals or couples who have an increased chance of having a child with a genetic condition or birth defect.

Genetic counselors are health professionals who have a master’s degree and specialized training in medical genetics and counseling. Genetic counselors usually work as members of health care teams which can include medical doctors, psychiatrists, psychologists, nutritionists, social workers and nurses. Genetic counseling is provided by board certified health professionals who are trained to:

• Review detailed medical and family health histories
• Help families understand genetic conditions and how they are inherited
• Explain inheritance patterns and risk of recurrence
• Perform risk assessments
• Review available testing options
• Arrange and interpret genetic tests
• Discuss disease management, treatment and surveillance options
• Explore the impact of genetic disorders on both affected and unaffected family members
• Assist families and individuals as they adjust to the diagnosis
• Provide information about community resources and support groups

The goal of genetic counseling is for families and individuals to:

• Understand the information
• Participate in decision making about their medical care
• Manage the associated problems in a way that is best for them and their families.

Who should consider genetic counseling?

Individuals who are affected with or have a family history of:

• Birth defects, such as spina bifida, cleft lip/palate, congenital heart defect, clubfoot
• Down syndrome or other chromosomal abnormalities
• An inherited condition such as hemophilia or muscular dystrophy
• Adult onset disorders such as high cholesterol levels, coronary artery disease, cancer
  and neurological or psychiatric disorders

Individuals who are affected with or:

• Are carriers of recessive disorders such as sickle cell disease, cystic fibrosis or Tay-
  Sachs disease
• Have a child or family member who is mentally retarded
• Pregnant women or women planning a pregnancy who:
  • Will be 35 years or older at delivery
  • Have a positive result on a routine blood screening test that suggests an increased risk to
  have a baby with a birth defect
  • Have an ultrasound that identifies an abnormality in the unborn baby
  • Have taken medications or drugs that may increase the risks in their pregnancy
  • Have conditions such as diabetes or chicken pox during pregnancy
  • Have a family history of a genetic condition
• Couples who:
  • Have a history of infertility, two or more pregnancy losses, stillbirths or early infant
  deaths
  • Have a child with a chromosome problem (such as Down Syndrome) • Have a child with a birth defect (spina bifida, cleft lip/palate, congenital heart defect,
  clubfoot, etc.)
  • Are relatives, such as first cousins

Birth Defects and Genetics Program

The Birth Defects and Genetics Program serves as a resource for families and health care professionals to aid in the diagnosis and management of individuals with genetic conditions and birth defects.

The program identifies appropriate therapies, interventions and referrals specific to an individual’s condition and offers guidelines for screening and prevention of associated complications.

A genetics evaluation:

• Educates families about the condition
• Identifies appropriate referrals to other physicians and services
• May identify possible complications prior to the onset of symptoms
• May suggest targeted treatment plans for health and educational services
• Discusses recurrence risks and carrier testing
• Identifies family members who may benefit from this information
• Refers families to appropriate social services agencies
• Provides information on community resources and support groups
  

An important component of this service is a genetics evaluation. The first step in a genetics evaluation is to meet with a genetic counselor to obtain a detailed family history. After that, a medical geneticist will review the medical history, conduct a physical examination and arrange appropriate tests. After this information has been gathered, the medical geneticist and the genetic counselor will discuss the findings of the evaluation with the individual or family.

Who should have a genetics evaluation?

Children with:

• developmental delays or mental retardation
• unusual physical features
• unusual growth patterns
• birth defects
• autistic features
• vision and hearing problems

Children or adults with:

• chromosome problems or who are at risk for genetic conditions

Families with:

• multiple close relatives with cancer
• early development of cancer

Familial Cancer Clinic

Approximately 1 in 3 Americans will develop cancer in their lifetime. Recent developments in cancer
research have increasingly recognized the importance of genetic factors in the development of this condition. Current estimates indicate that 5 to 10 percent of cancer cases are hereditary.

The Familial Cancer Center was designed to serve as a resource and information center for families and individuals with concerns about their genetic risk of cancer.

Individuals who come to the Familial Cancer Clinic will meet with a geneticist and genetic counselor who will assess the individual’s personal cancer risk. This is done by obtaining family and medical histories, performing a physical examination and reviewing the medical records of family members affected with cancer.

After one’s cancer risk has been assessed, appropriate screening and prevention strategies are
discussed. For some individuals, this may include genetic testing. For these individuals, the benefits and risks of genetic testing will be discussed prior to any testing.

Referral guidelines

Individuals should consider having a Cancer Genetics Evaluation if:

• The cancer in their family was diagnosed at an early age (<50 years)
• Several relatives have the same (or related) type of cancer
• The cancer in their family is bilateral (Bilateral means occurring in paired organs such
  as breast or kidney)
• Rare cancers are seen in their family (for instance, male breast cancer)
• Individuals in their family have multifocal cancers (Multifocal means more than one tumor in the
  same organ)
• Individuals in their family have multiple primary cancers (Primary cancers are “new” cancers —
  not cancer that results from the spreading of cancer from one organ to another)
• Relatives have a known cancer syndrome

Benefits of a cancer genetics evaluation:

• Provides tailored screening recommendations, health promotion recommendations and targeted prevention strategies
• Provides tailored screening recommendations, health promotion recommendations and targeted prevention strategies
• Addresses concerns about one’s chance of developing cancer
• Addresses concerns about the chance of cancer in one’s children and siblings
• Educates individuals about cancer and personal risk factors
• Provides information that can aid in clinical management decisions
• Discusses the advantages and disadvantages of genetic testing
• Identifies family members who may benefit from this information
• Evaluates psychological needs relating to cancer
• Provides information on community resources and support groups

Our Genetics team

David J. Tilstra, M.D.
Dr. David Tilstra completed his undergraduate studies at Northwestern College, Orange City, Iowa, in 1983 and received his medical degree from the University of Iowa in 1988. He completed his pediatric residency at the University of Iowa in 1991 and medical genetics fellowship at the University of Washington in 1994. He was certified by the American Board of Pediatrics in 1991 and the American Board of Genetics in 1993. Dr. Tilstra is a member of the American Academy of Pediatrics and the American College of Medical Genetics. He also is the medical director of CentraCare Clinic.

Joy Gustin, M.S., Genetic Counselor
Ms. Gustin is a graduate of the University of Minnesota and has a master’s degree in human genetics with an emphasis in genetic counseling. Genetic counseling programs balance studies in genetics, psychosocial counseling and biomedical ethics. Ms. Gustin was certified by the American Board of Genetic Counseling in 1999. She is a member of the National Society of Genetic Counselors, American College of Medical Genetics and the American Society of Human Genetics.

Contact and Insurance Information

Contacting the Clinic: Genetics (320) 654-3654

We strongly encourage individuals to bring a support person with them to the appointment. This person could be a spouse, companion, family member or close friend. This individual should be someone who will provide moral support during the appointment, between appointments and during any testing that may be done. In addition, it is helpful to have another person hear the information and ask questions.

Insurance

We request that you contact your insurance carrier prior to scheduling an appointment.

Helpful Resources

Genetics
Genetic Counseling
Birth Defects Testing