PAML :: Pages :: Genetic Counseling

Genetic Counseling is the process of giving families and individuals information and support on a variety of exisiting medical conditions or conditions for which they are at risk.

Genetic evaluation involves a medical examination by a board-certified medical geneticist physician. This can include appropriate laboratory or other diagnostic testing for the family/individual, with the aim to establish a diagnosis. Genetic counseling may be a part of this process.

Providence Genetics Clinic

105 W 8th Ave. Suite 650E
Spokane,WA 99204
P: 509-474-3810
F: 509-474-3811
Pager (Dr. Martin) 509-880-2574

Clinical Medical Director:
Judith A. Martin

Genetic Counselors:
Lael Hinds, M.S. CGC
Shawnia Forrester, M.S., CGC

For a patient referral in other areas, please contact your local genetics provider or click here for a list of genetics service providers in Washington State.

Genetic Services physicians can provide to patients and/or family:
Reproductive Genetic Services

Click to access the Prenatal Screening Questionnaire

When to Refer for Genetic Consultation: A Guide for Physicians
PRECONCEPTION OR PRENATAL PATIENTS

FINDING	REASON TO CONSIDER CONSULTATION
Patient age 35 or older (singleton pregnancy)	Discuss testing options
Patient age 33 or older (twin pregnancy)	Discuss testing options
Parents close blood relatives (consanguineous union)	Review pedigree; establish degree of relatedness and any potential additional fetal risks and testing options pre-delivery
Abnormal first or 2^nd trimester screen	Discuss testing options
Teratogen exposure	Discuss risks to pregnancy and testing options
Fetal anomaly on ultrasound	Discuss risks to pregnancy and testing options
Personal or family history or pregnancy complications with known genetic association	Discuss fetal and maternal risks, including a metabolic disorder
Positive carrier screen result of either member or a couple	Discuss additional testing strategies and inheritance
Personal or family history of spontaneous miscarriages	Rule out a chromosomal or syndromic diagnosis
Personal or family history of progressive neurologic conditions in either partner	Discuss potential and differential diagnoses, inheritance and testing options
Presence of a statin-induced myopathy	Discuss potential mitochondrial disorder, inheritance and testing options
Positive family history of cleft lip/palate, heart defects or spina bifida in either partner	Discuss recurrence risks and testing options, discuss folate supplementation
Personal or family history of chromosome abnormality present in either partner	Discuss risks to fetus and testing options
Personal or family history of significant hearing or vision loss in either partner	Discuss risks to fetus and testing options
Personal or family history of mental retardation or autism in either partner	Discuss risks to fetus and testing options
1. "Indications for genetic referral: a guide for healthcare providers", Genetics in Medicine, 9(6): 385-389, June 2007.

Learn about

Prevention of some birth defects
Maternal Serum Biochemical Screening
Prenatal diagnosis testing options
Risks based on family history information
Adverse exposure during pregnancy
Available fetal surgery or other in utero treatments

Pediatric Genetic Services

Click to access the Pediatric Screening Questionnaire

When to Refer for Genetic Consultation: A Guide for Physicians
PEDIATRIC PATIENTS

FINDING	REASON TO CONSIDER CONSULTATION
NEONATE
Abnormal newborn screen result	Confirm/rule out inborn error of metabolism, counsel regarding recurrence risks
Congenital hyper- or hypotonia	Confirm/rule out chromosomal, metabolic or syndromic diagnosis
Unexplained intrauterine growth retardation	Rule out a chromosomal or syndromic diagnosis
NEONATE, INFANT OR CHILD
Single major of multiple major or minor anomalies	Confirm/rule out chromosomal or syndromic diagnosis, counsel regarding possible recurrence and preventive measures in subsequent pregnancies
Non-familial dysmorphic features with developmental delay or mental retardation	Confirm/rule out chromosomal or syndromic diagnosis, counsel regarding possible recurrence risks
Known metabolic disorder	Diagnose inborn error of metabolism, discuss treatment/management and recurrence risks
Abnormal brain MRI	Confirm/rule out chromosomal or syndromic diagnosis, counsel regarding possible recurrence risks
Unusual growth pattern (overgrowth, short stature or hemihypertrophy)	Confirm/rule out a chromosomal, syndromic or metabolic diagnosis, counsel regarding possible recurrence risks
Connective tissue disorder including joint laxity, poor wound healing, marfanoid body habitus	Confirm/rule out a connective tissue disorder, counsel regarding recurrence risks and patient management
Congenital eye defects or blindness associated with microophthalmia, cataracts, megalocornea, retinitis pigmentosa or cone-rod dystrophy	Confirm/rule out a syndromic diagnosis, counsel regarding recurrence risks
Significant hearing loss not secondary to recurrent otitis media	Confirm/rule out syndromic form of hearing loss, counsel regarding recurrence risks
Cardiomyopathy not secondary to viral infection	Confirm/rule out mitochondrial or other syndromic or metabolic disorder, counsel regarding recurrence and potentially hereditary forms of cardiomyopathy
Six or more café au lait macules >0.5 cm in diameter	Confirm/rule out Neurofibromatosis, counsel regarding recurrence risks and medical management and surveillance
Unusual skin findings such as multiple types of lesions, multiple lipomas, hypo or hyperpigmented areas, albinism	Confirm/rule out chromosomal or syndromic diagnosis, counsel regarding recurrence
Born to parent carrying a known chromosome anomaly	Confirm/rule out a syndromic diagnosis, counsel regarding recurrence risks
Bilateral or multifocal malignancies such as retinoblastoma or Wilms tumor	Confirm/rule out a cancer syndrome, or other chromosomal or syndromic diagnosis, counsel regarding recurrence and medical management and surveillance
Clotting problems including hemophilia or Thrombophilia	Confirm/rule out an inherited clotting disorder and certain genetic syndromes, counsel regarding recurrence and medical management
Recognized or suspected genetic syndrome Including chromosomal or single gene disorder	Confirm/rule out an inherited clotting disorder and certain genetic syndromes, counsel regarding recurrence and medical management
Significant family history of medical or psychiatric conditions	Confirm/rule out the suspected diagnosis, counsel regarding prognosis, medical management and recurrence risks and inheritance
CHILD
Unexplained mental retardation or global developmental delays	Confirm/rule out a chromosomal, syndromic or metabolic diagnosis, discuss recurrence risks, medical management, inheritance
Autism or pervasive developmental disorder	Rule out a chromosomal or syndromic diagnosis, counsel regarding recurrence, inheritance, prognosis
Unusual behavior accompanied by minor malformations and developmental delay	Rule out a chromosomal or syndromic diagnosis, counsel regarding recurrence, inheritance and prognosis
Immunodeficiency	Confirm/rule out a syndromic diagnosis or genetic form of immunodeficiency, counsel regarding recurrence risks, medical management
Progressive muscle weakness	Confirm/rule out suspected syndromic diagnosis, discuss inheritance, recurrence risks and medical management
Neurologic condition such as peripheral neuropathy, myopathy, progressive ataxia or other progressive neurologic disorder without a clear non-genetic cause	Confirm/rule out a genetic diagnosis, counsel regarding inheritance, recurrence risks and medical management
1. "Indications for genetic referral: a guide for healthcare providers", Genetics in Medicine, 9(6): 385-389, June 2007.

Learn About

Possible causes for a child's physical differences, developmental delay or behavioral issues
Available diagnostic testing
Recurrence risks to members of the family
Medical management for the condition identified within the family/individual

Adult Genetic Services

Click to access the Adult Family History Form

When to Refer for Genetic Consultation: A Guide for Physicians
ADULT PATIENTS

FINDING	REASON TO CONSIDER CONSULTATION
Abnormal sexual maturation or delayed puberty	Rule out sex-reversal condition or chromosome abnormality
Recurrent pregnancy loss (>2)	Rule out a chromosome abnormality
Short or tall stature for family background	Rule out skeletal dysplasia, chromosome abnormality or syndromic condition
Six or more café au lait spots >1.5 cm	Rule out neurofibromatosis type 1
Statin-induced myopathy	Rule out a mitochondrial disorder
Personal and/or family history of breast, colon, ovarian cancer with young onset age, familial clustering of cases, and/or bilateral lesions	Discuss testing options and strategies, surveillance, treatment, and inheritance
Cardiovascular issues known to be associated with genetics factors (long QT,hyperlipidemia)	Discuss testing options and strategies, surveillance, treatment, and inheritance
Connective tissue disorder	Rule out a syndromic diagnosis, discuss surveillance, treatment, and inheritance
Hematologic condition with excessive bleeding or clotting	Confirm or rule out genetic condition, discuss treatment, testing options, inheritance
Progressive neurologic condition, including unexplained neuropathy, progressive ataxia, early onset dementia	Confirm or rule out diagnosis, discuss surveillance, treatment, testing options and inheritance
Visual loss due to retinitis pigmentosa, early-onset macular degeneration, cataracts	Rule out syndromic diagnosis, discuss testing options and inheritance
Early onset hearing loss	Rule out a syndromic or non-syndromic diagnosis, discuss surveillance, testing options and inheritance
Recognized chromosomal or single gene disorder	Confirm diagnosis, discuss prognosis, medical management and inheritance
Family history of sudden, unexplained death at a young age	Rule out genetic conditions with this history, ie. Long QT, Marfan and other cardiac conditions
1. "Indications for genetic referral: a guide for healthcare providers", Genetics in Medicine, 9(6): 385-389, June 2007.

Learn About

Available diagnostic or pre-testing
Medical management issues with the condition of adulthood
Genetic factors known in adult chronic disease and risks to other family members for the condition
Risk for a particular condition based on medical examination and family history
Risk reduction strategies