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WHEN TO CONSIDER GENETIC COUNSELING 

A Guide for Healthcare Providers  

Genetic questions can arise before testing, after testing, or when a patient's personal or family history suggests that inherited factors may be relevant.

Genetic counseling can help patients understand genetic information, consider testing options, prepare for possible results, and understand the potential implications of genetic findings for themselves and their families.

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Clinical Scenarios by Category:

Hereditary Cancer | Prenatal & Reproductive | Rare Disease & General Genetics | Neurogenetics | Cardiovascular | Pharmacogenomics | Before & After Genetic Testing

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For general educational reference only.

Examples are illustrative, not exhaustive, and do not replace clinical judgment, current professional guidelines, or consultation with a qualified genetics professional.

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At a Glance: Genetics Questions Often Arise When....

1
Known genetic finding

​A pathogenic or likely pathogenic finding has been identified

2
Personal or family history

History suggests a possible inherited condition

3
Testing is being considered

The appropriate testing approach is unclear

4
Unexpected test or screening finding

Screening, tumor testing, imaging, or other findings raise a genetics question

5
Results need interpretation

Genetic results or family implications need further discussion

Cancer

Clinical Scenarios by Specialty:

When to Consider Hereditary Cancer Genetic Counseling

 

A genetics question may arise based on a patient's cancer history, tumor or molecular findings, family history, ancestry, known genetic findings, or hereditary cancer risk assessment.

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  • Examples include:

  • A pathogenic or likely pathogenic hereditary cancer variant identified in the patient or a family member

  • Cancer diagnosed at a younger-than-expected age or multiple primary cancers in the same individual

  • Multiple relatives with the same or related cancers, particularly across generations

  • Ovarian, fallopian tube, primary peritoneal, or pancreatic cancer

  • Colorectal or endometrial cancer with tumor findings suggesting mismatch repair deficiency

  • Tumor or molecular findings with potential germline implications

  • Prostate cancer with features associated with hereditary cancer predisposition, including certain advanced or high-risk presentations

  • Ancestry associated with increased prevalence of specific hereditary cancer variants, including Ashkenazi Jewish ancestry

  • Personal or family history suggestive of a hereditary cancer syndrome, including unusual cancer combinations or rare, early-onset cancers

  • Hereditary cancer risk meeting a threshold for further evaluation using a validated risk-prediction model

  • Previous genetic testing that was limited in scope or may no longer address the current clinical or family-history question

When to Consider Prenatal or Reproductive Genetic Counseling

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Genetic questions may arise during preconception planning, infertility evaluation or treatment, and throughout pregnancy.

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Examples include:

  • A pathogenic or likely pathogenic variant, clinically significant chromosome finding, or genetic condition in the patient, reproductive partner, pregnancy, child, or family

  • A personal or family history suggestive of an inherited condition, even when a genetic cause has not been identified

  • Questions about preconception carrier screening, inherited disease risk, or reproductive options

  • Positive or complex carrier screening results, including carrier couples or X-linked carrier findings

  • Consanguinity or other circumstances that may increase the likelihood of an autosomal recessive condition

  • Infertility or reproductive history with clinical, family-history, or test findings that raise a genetic question

  • Male infertility with findings suggestive of a possible genetic cause

  • Recurrent pregnancy loss, particularly when pregnancy-tissue testing or parental chromosome findings raise a genetic question

  • IVF planning involving a known genetic condition, pathogenic or likely pathogenic variant, or structural chromosome rearrangement

  • Consideration of PGT-M or PGT-SR, including counseling before testing or interpretation of results

  • Donor eggs, sperm, or embryos when genetic or carrier-screening findings raise questions

  • Positive, inconclusive, or unexpected prenatal screening results

  • Ultrasound or other fetal findings that may have a genetic association

  • Questions about prenatal diagnostic testing, including benefits, limitations, and possible outcomes

  • Pregnancy following PGT-M or PGT-SR when counseling about prenatal testing or prior genetic findings may be helpful

When to Consider Genetic Counseling for Rare Disease & General Genetics

 

Genetic questions may arise when a patient has unexplained, complex, congenital, or multisystem findings that suggest a possible underlying genetic condition.

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Examples include:

  • A pathogenic or likely pathogenic variant or clinically significant chromosome finding has been identified in the patient

  • A known genetic condition, pathogenic or likely pathogenic variant, or chromosome finding has been identified in a family member

  • Multiple relatives with the same or related unexplained clinical findings

  • Congenital anomalies or a pattern of physical findings suggestive of an underlying genetic condition

  • Unusual growth patterns, dysmorphic features, or other findings that raise a genetic question

  • Findings involving multiple organ systems that may suggest an underlying genetic or syndromic condition

  • An unexplained, complex, or atypical clinical presentation that raises concern for a genetic condition

  • A suspected rare disease for which genetic or genomic evaluation is being considered

  • Previous genetic testing that was negative, inconclusive, limited in scope, or may no longer address the current clinical question

  • Genetic or genomic results that require further interpretation in the context of the patient's clinical and family history

When to Consider Neurogenetic Counseling

 

Genetic questions may arise when neurologic or neurodevelopmental findings, family history, or genetic test results suggest a possible inherited or genetic condition.

 

Examples include:

  • A pathogenic or likely pathogenic variant associated with a neurologic or neurodevelopmental condition has been identified in the patient

  • A known neurologic or neurodevelopmental genetic condition or pathogenic or likely pathogenic variant has been identified in a family member

  • Multiple relatives with the same or related neurologic or neurodevelopmental findings

  • Developmental delay, intellectual disability, autism spectrum disorder, or developmental regression

  • Epilepsy or seizure disorders with features suggesting a possible genetic cause

  • Neuromuscular disease, including unexplained muscle weakness, myopathy, muscular dystrophy, or hereditary neuropathy

  • Movement disorders, ataxia, spasticity, or other progressive neurologic findings with a suspected genetic contribution

  • Early-onset, atypical, or familial neurodegenerative disease

  • Previous genetic testing that was negative, inconclusive, limited in scope, or may no longer address the current clinical question

  • Genetic or genomic results that require further interpretation in the context of the patient's neurologic presentation and family history

When to Consider Cardiovascular Genetic Counseling

 

Genetic questions may arise when a patient's cardiovascular findings, family history, or genetic test results suggest a possible inherited cardiovascular condition.

 

Examples include:

  • A pathogenic or likely pathogenic variant associated with an inherited cardiovascular condition in the patient or a family member

  • Multiple relatives with the same or related cardiovascular findings

  • Cardiomyopathy, particularly when unexplained, early onset, severe, or familial

  • Arrhythmia, conduction disease, or features suggestive of an inherited arrhythmia syndrome

  • Sudden unexplained cardiac arrest or death, particularly at a young age or with similar events in the family

  • Thoracic aortic aneurysm or dissection, particularly at a young age, with a suggestive family history, or with features of an inherited connective tissue disorder

  • Markedly elevated cholesterol or suspected familial hypercholesterolemia, particularly with premature cardiovascular disease or a suggestive family history

  • Pulmonary arterial hypertension when a heritable form is suspected

  • Congenital heart disease with additional congenital, developmental, or other findings that raise a genetic question

  • Cardiovascular findings with features involving other organ systems that may suggest an underlying genetic or syndromic condition

  • Previous genetic testing that was negative, inconclusive, limited in scope, or may no longer address the current clinical question

When to Consider Pharmacogenomic Genetic Counseling

 

Pharmacogenomic (PGx) questions may arise before testing, when results are available, or when genetic information may be relevant to medication response.

 

Examples include:

  • Pharmacogenomic testing is being considered and the patient has questions about its uses, limitations, or possible results

  • Pharmacogenomic information may be relevant to a medication being considered by the patient's treating healthcare professional

  • PGx results require explanation or interpretation, including complex or multiple gene-drug findings

  • A patient has questions about how PGx results may relate to medication response or adverse-effect risk

  • PGx findings are included in broader genetic, genomic, or direct-to-consumer testing

  • PGx results need to be understood alongside other genetic or genomic findings

  • A patient has questions about potential implications of PGx findings for family members

  • Previous PGx testing was limited in scope or may require clarification based on current information

When the Appropriate Genetic Test Is Unclear

 

A clinician does not need to identify a specific genetic test before a patient speaks with a genetic counselor.

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Genetic counseling may be helpful when:

  • A personal or family history raises a genetic question

  • It is unclear which testing approach may best address the clinical question

  • Multiple testing approaches are available

  • The benefits, limitations, and possible outcomes of testing need to be discussed

  • The patient would benefit from education before deciding whether to pursue testing

  • Previous testing did not fully resolve the clinical question

  • Testing or results may have implications for family members

When Genetic Testing Has Already Been Performed

 

Genetic questions may arise after testing when:

  • A pathogenic or likely pathogenic variant has been identified

  • A variant of uncertain significance (VUS) has been reported

  • Testing is negative but questions remain based on the patient's personal or family history

  • A result or its limitations, residual risk, or clinical context require further explanation

  • The patient has questions about potential implications for family members

  • Testing was obtained through a direct-to-consumer or other third-party service

  • Previous testing was limited, inconclusive, or may no longer address the current clinical question

  • Tumor or molecular testing identifies a finding with potential germline implications

Questions, Referrals & Partnerships

Have a question, want to refer a patient, or interested in exploring a genetics partnership? Contact us to discuss your needs.

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partnerships@geneticcare360.com │ 855-275-3601 │ geneticcare360.com

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