Genetic Conditions in Grand Rapids, Michigan

Genes are the body’s instruction manual for growth, development, and day‑to‑day function. When a gene or a set of genes is altered, it can cause a genetic condition.

Healthcare providers in Grand Rapids, MI—including Spectrum Health, Trinity Health Grand Rapids, Metro Health, and Mercy Health—regularly diagnose, manage, and support patients and families affected by genetic conditions.

Genetic conditions are broadly grouped into:

  • Single gene conditions
  • Chromosome abnormalities
  • Mitochondrial conditions
  • Multifactorial (many‑factor) conditions

Understanding how these conditions work can help Grand Rapids families make informed decisions about testing, treatment, and family planning.

How Genes and Chromosomes Work

Each person has about 23,000 genes, arranged on tightly coiled strands of DNA (deoxyribonucleic acid). These strands are packaged into structures called chromosomes.

  • Most people have 46 chromosomes, in 23 pairs
  • One copy of each pair comes from the mother, and one from the father
  • Females typically have 46,XX; males typically have 46,XY

Genes act as instructions for making molecules like proteins and hormones. If a gene is altered (mutated), the instructions can be changed or missing, which may lead to disease.

There are around 6,000 known genetic conditions caused by inheriting an altered gene.

Main Types of Genetic Inheritance

1. Autosomal Dominant Conditions

In autosomal dominant conditions, a single altered copy of a gene is enough to cause the condition. The altered gene is “dominant” over the healthy copy.

  • Usually seen in every generation of a family
  • Each child of an affected parent has a 50% chance of inheriting the altered gene

Example:

  • Familial hypercholesterolemia (genetically high cholesterol), which is important in West Michigan where heart disease and high cholesterol are common health concerns

Grand Rapids cardiology clinics at Spectrum Health and Trinity Health Grand Rapids often screen for and manage these cholesterol‑related genetic conditions.

2. Autosomal Recessive Conditions

In autosomal recessive conditions, a person must inherit two altered copies of a gene (one from each parent) to be affected.

  • Parents are often carriers (they have one altered and one normal copy, but no symptoms)
  • Each pregnancy has:
    • 25% chance of an affected child
    • 50% chance of a carrier child
    • 25% chance of a child with two normal copies

Examples:

  • Cystic fibrosis
  • Phenylketonuria (PKU)
  • Sickle cell anemia

Newborn screening programs in Michigan—often coordinated through the Michigan Department of Health & Human Services and local partners like the Kent County Health Department—test for several autosomal recessive conditions shortly after birth.

3. X‑Linked Recessive Conditions

In X‑linked recessive conditions, the altered gene is on the X chromosome.

  • More common in males (XY) because they have only one X chromosome
  • Females (XX) usually have one normal copy to compensate, and are often carriers

Examples:

  • Duchenne muscular dystrophy
  • Hemophilia

Boys in Grand Rapids with unexplained muscle weakness or bleeding problems may be referred to pediatric specialists and genetic services at Spectrum Health Helen DeVos Children’s Hospital or other local pediatric centers.

4. X‑Linked Dominant Conditions

In X‑linked dominant conditions, an altered gene on the X chromosome can cause disease even when only one copy is altered.

  • Often more frequently identified in females
  • A mother with an X‑linked dominant condition has a 50% chance of passing it to each child

Example:

  • Hypophosphatemic (vitamin D–resistant) rickets, a rare form of rickets

In a northern climate like West Michigan, where sunlight exposure is limited in long, cloudy winters, vitamin D–related conditions are of special interest to local pediatricians and endocrinologists.

Chromosome Abnormalities

More than 1,000 known conditions are caused by chromosome abnormalities. A chromosome condition occurs when there is a change in:

  • The number of chromosomes
  • The structure of one or more chromosomes

These changes can happen:

  • When the egg or sperm is formed
  • When the embryo first starts dividing
  • Less commonly, can be passed from a parent with a chromosome rearrangement

Changes in Chromosome Number

Normally, egg and sperm cells each carry 23 chromosomes. During formation, chromosome pairs split so each germ cell gets one copy.

Sometimes, an error occurs:

  • An egg or sperm may have 22 chromosomes (missing one)
  • Or 24 chromosomes (extra one)

At conception, this can result in:

  • 45 chromosomes (too few)
  • 47 chromosomes (too many)

Example:

  • Down syndrome (Trisomy 21), where a person has 47 chromosomes instead of 46

Many pregnancies with major chromosome number changes end in miscarriage, which is why these conditions are relatively rare in live births. OB/GYN practices in Grand Rapids and maternal‑fetal medicine specialists at Spectrum Health and Trinity Health Grand Rapids offer prenatal screening and diagnostic testing for chromosome conditions.

Changes in Chromosome Structure

Sometimes the structure of a chromosome changes:

  • A fragment may break off and be lost
  • A piece may break away and attach to another chromosome (translocation)
  • A fragment may duplicate itself
  • The ends of a chromosome may join to form a ring chromosome

Some of these changes are balanced—no material is lost or gained. Balanced changes may not cause health problems but can increase the risk of miscarriage or children with unbalanced chromosome changes.

Uniparental Disomy

Uniparental disomy occurs when a child inherits both copies of a particular chromosome (or part of a chromosome) from one parent, and none from the other.

This can cause problems when certain genes need to be inherited from both parents for normal function. It can also be important in conditions involving genomic imprinting (where the effect of a gene depends on whether it came from the mother or father).

Chromosomal Mosaicism

In chromosomal mosaicism, a person has two or more different cell lines, each with a different chromosome number or pattern.

  • Example: Some cells have 46 chromosomes, others have 47

Mosaicism can lead to milder or more variable forms of chromosome conditions. Genetic specialists in Grand Rapids use blood tests, sometimes skin biopsies or other tissue tests, to look for mosaic patterns.

Mitochondrial Conditions

Mitochondria are tiny “power plants” in each cell, producing energy in the form of ATP (adenosine triphosphate). Organs that need a lot of energy—like the brain, heart, and muscles—are especially affected when mitochondria do not work properly.

Mitochondria have their own genes, separate from the genes in the cell nucleus.

  • If a gene in the mitochondria is altered, the condition is usually inherited only from the mother
  • This is because we inherit almost all our mitochondria from the egg, not the sperm

Depending on which mitochondrial genes are affected, symptoms can involve:

  • Brain and nervous system

    • Intellectual disabilities
    • Seizures
    • Vision or hearing loss

  • Heart

    • Cardiomyopathy (heart muscle weakness or failure)
    • Irregular heart rhythms

  • Muscles and movement

    • Poor muscle tone
    • “Floppiness” in infants
    • Exercise intolerance

Patients in Grand Rapids with unexplained neurological symptoms, heart issues, or muscle weakness may be referred to neurology or cardiology specialists and genetic testing services to evaluate for mitochondrial disease.

Multifactorial (Polygenic) Conditions

Multifactorial conditions result from a combination of:

  • Multiple genes (polygenic inheritance)
  • Environmental factors (diet, lifestyle, exposures)

These conditions are very common and include many chronic diseases seen in West Michigan, such as:

  • High blood pressure (hypertension)
  • Heart disease
  • Many common birth defects

Examples:

  • Spina bifida – influenced by several genes and the mother’s folate intake during pregnancy
  • High blood pressure – influenced by many genes, plus:
    • Diet (including salt intake)
    • Body weight
    • Physical activity
    • Smoking and alcohol use

In Grand Rapids, where cold winters can limit outdoor activity and encourage more time indoors, maintaining regular exercise and a heart‑healthy diet is especially important. Local resources like the Kent County Health Department, community health programs, and wellness initiatives through Spectrum Health, Trinity Health Grand Rapids, and Metro Health can help residents manage these risk factors.

Genetic Counseling in Grand Rapids, MI

If you, your child, or another family member has been diagnosed with a genetic or chromosomal condition—or if a condition runs in your family—genetic counseling can be very helpful.

Genetic counselors are healthcare professionals trained in both genetics and counseling. They can:

  • Explain the cause of a condition
  • Discuss how it is inherited
  • Review risks for other family members
  • Go over genetic testing options (before pregnancy, during pregnancy, or after birth)
  • Help you understand what a diagnosis means for:
    • Your health
    • Your child’s development
    • Future family planning

They also provide emotional support and information tailored to your family’s culture, beliefs, and circumstances.

You might consider seeing a genetic counselor in Grand Rapids if:

  • A genetic condition runs in your family
  • You have a child with a birth defect or developmental delay
  • You or your partner are planning a pregnancy and want to know your risks
  • You have had multiple miscarriages or stillbirths
  • You have a personal or family history of early‑onset cancer, heart disease, or other inherited conditions

Local genetic counseling and clinical genetics services are typically available through:

  • Spectrum Health / Corewell Health genetics clinics
  • Trinity Health Grand Rapids specialty clinics
  • Pediatric genetics at Helen DeVos Children’s Hospital
  • Referrals from your primary care provider or OB/GYN

The Kent County Health Department and Grand Rapids Public Health programs can also help connect families to appropriate services and support networks.

Local and National Support Resources

In addition to local hospital‑based genetics clinics, Grand Rapids residents can access:

  • Kent County Health Department – information on newborn screening, family planning, and maternal‑child health services
  • Michigan Department of Health & Human Services – statewide genetic services, newborn screening, and specialty care programs
  • National condition‑specific organizations (for example, for cystic fibrosis, muscular dystrophy, or sickle cell disease) that can connect you with other families and educational resources

Ask your genetic counselor or primary care provider in Grand Rapids for up‑to‑date contact information and referrals tailored to your specific condition.

Where to Get Help in Grand Rapids

  • Your GP / primary care doctor
  • OB/GYN or midwife if you are pregnant or planning a pregnancy
  • Pediatrician if you have concerns about your child’s development or health
  • Genetic counselor (via Spectrum Health, Trinity Health Grand Rapids, Metro Health, or Mercy Health)
  • Clinical geneticist (physician specializing in genetic conditions)
  • Kent County Health Department – maternal and child health, family planning, and screening resources

If you are unsure where to start, speak with your primary care provider—they can help coordinate referrals to appropriate genetic services in Grand Rapids, MI.

Key Points About Genetic Conditions

  • A genetic condition is caused by an altered gene or set of genes.
  • Around 6,000 known genetic conditions are caused by inheriting an altered gene.
  • Autosomal dominant conditions occur when the altered gene is dominant over the healthy copy.
  • Autosomal recessive conditions occur when a person has two altered copies and no functioning copy of the gene.
  • X‑linked recessive conditions are more common in males because they have only one X chromosome.
  • Chromosome abnormalities, mitochondrial conditions, and multifactorial conditions are also important causes of disease.
  • Genetic counseling in Grand Rapids, MI can help you understand risks, testing options, and support services for you and your family.